Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
SNX31	169166	broad.mit.edu	37	8	101596393	101596393	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:101596393C>T	uc003yjr.3	-	11	1267	c.1116G>A	c.(1114-1116)ttG>ttA	p.L372L	SNX31_uc011lha.2_Silent_p.L167L|SNX31_uc011lhb.2_Silent_p.L273L	NM_152628	NP_689841	Q8N9S9	SNX31_HUMAN	Homo sapiens sorting nexin 31 (SNX31), mRNA.	372					cell communication|protein transport		phosphatidylinositol binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			TCATCTTTTTCAAGCAGCTAC	0.393000														12			44		0	0	1	0	0
SHROOM4	57477	broad.mit.edu	37	X	50438877	50438877	+	Missense_Mutation	SNP	T	C	C			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:50438877T>C	uc004dpe.2	-	1	204	c.178A>G	c.(178-180)Aat>Gat	p.N60D	SHROOM4_uc004dpd.3_Non-coding_Transcript	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN	Homo sapiens shroom family member 4 (SHROOM4), transcript variant 1, mRNA.	60	PDZ.				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					CCATTGATATTCACCAGCTCA	0.483000														9			13		0	0	1	0	0
RAPH1	65059	broad.mit.edu	37	2	204313555	204313555	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:204313555G>A	uc002vad.3	-	10	1643	c.1418C>T	c.(1417-1419)cCa>cTa	p.P473L	RAPH1_uc002vae.3_Missense_Mutation_p.P525L|RAPH1_uc002vaf.3_Missense_Mutation_p.P525L	NM_213589	NP_998754	Q70E73	RAPH1_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 (RAPH1), transcript variant 1, mRNA.	473	PH.				cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTGGATTTGTGGATGCTGCAA	0.378000														43			9		0	0	1	0	0
OLFML2A	169611	broad.mit.edu	37	9	127563717	127563717	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:127563717G>A	uc004bov.3	+	4	807	c.694G>A	c.(694-696)Gac>Aac	p.D232N	OLFML2A_uc010mwr.1_Missense_Mutation_p.D196N|OLFML2A_uc004bow.3_Missense_Mutation_p.D18N	NM_182487	NP_872293	Q68BL7	OLM2A_HUMAN	Homo sapiens olfactomedin-like 2A (OLFML2A), mRNA.	232										endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						AAAAGGCAAGGACATCAGCAA	0.517000														52			22		0	0	1	0	0
IKZF1	10320	broad.mit.edu	37	7	50450395	50450395	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:50450395G>A	uc003tow.4	+	4	734	c.579G>A	c.(577-579)agG>agA	p.R193R	IKZF1_uc022acq.1_Intron|IKZF1_uc003tpa.4_Intron|IKZF1_uc022acr.1_Intron|IKZF1_uc022acs.1_Intron|IKZF1_uc022act.1_Silent_p.R106R|IKZF1_uc022acu.1_Silent_p.R106R|IKZF1_uc003tox.4_Silent_p.R193R|IKZF1_uc022acv.1_Silent_p.R106R|IKZF1_uc022acw.1_Silent_p.R106R|IKZF1_uc022acx.1_Silent_p.R193R|IKZF1_uc022acy.1_Intron|IKZF1_uc022acz.1_Intron|IKZF1_uc011kck.2_Silent_p.R106R|IKZF1_uc003toy.4_Silent_p.R193R|IKZF1_uc003toz.4_Silent_p.R163R|IKZF1_uc010kyx.3_Intron	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	Homo sapiens IKAROS family zinc finger 1 (Ikaros) (IKZF1), transcript variant 1, mRNA.	193	Required for both high-affinity DNA binding and pericentromeric heterochromatin localization (By similarity).				cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(131)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				GCCACCTGAGGACGCACTCCG	0.657000			"""D,T"""	BCL6	"""ALL, DLBCL"""									13			8		0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	70966503	70966503	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:70966503C>T	uc003pfg.4	-	20	1630	c.1471G>A	c.(1471-1473)Gaa>Aaa	p.E491K	COL9A1_uc003pfe.4_Missense_Mutation_p.E64K|COL9A1_uc003pff.4_Missense_Mutation_p.E248K	NM_001851	NP_001842	P20849	CO9A1_HUMAN	Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.	491	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						GGCCCAGGTTCACCATCTAAG	0.398000														9			8		0	0	1	0	0
ATP8B4	79895	broad.mit.edu	37	15	50190418	50190418	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:50190418C>T	uc001zxu.3	-	21	2462	c.2320G>A	c.(2320-2322)Gat>Aat	p.D774N	ATP8B4_uc010ber.3_Missense_Mutation_p.D647N|ATP8B4_uc010ufd.2_Missense_Mutation_p.D584N|ATP8B4_uc010ufe.2_Non-coding_Transcript|ATP8B4_uc001zxv.1_Missense_Mutation_p.D72N	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	774					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TCTAGGAGATCATTCTTGACA	0.393000														30			14		0	0	1	0	0
PMEPA1	56937	broad.mit.edu	37	20	56227540	56227540	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr20:56227540C>T	uc002xyq.3	-	3	826	c.433G>A	c.(433-435)Gac>Aac	p.D145N	PMEPA1_uc002xyr.3_Missense_Mutation_p.D95N|PMEPA1_uc002xys.3_Missense_Mutation_p.D110N|PMEPA1_uc002xyt.3_Missense_Mutation_p.D95N	NM_020182	NP_954640	Q969W9	PMEPA_HUMAN	Homo sapiens prostate transmembrane protein, androgen induced 1 (PMEPA1), transcript variant 1, mRNA.	145					androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						GGTGGCAGGTCGATCTCGTGC	0.711000														8			4		0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79025799	79025799	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:79025799G>A	uc003kgc.3	+	1	1283	c.1211G>A	c.(1210-1212)gGa>gAa	p.G404E		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	404						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GCTTCACCAGGAACTGCAGCT	0.453000														16			12		0	0	1	0	0
SYCP2L	221711	broad.mit.edu	37	6	10928639	10928639	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:10928639C>T	uc003mzo.3	+	17	1740	c.1444C>T	c.(1444-1446)Cag>Tag	p.Q482*	SYCP2L_uc011din.1_Intron|SYCP2L_uc010jow.3_Nonsense_Mutation_p.Q102*	NM_001040274	NP_001035364	Q5T4T6	SYC2L_HUMAN	Homo sapiens synaptonemal complex protein 2-like (SYCP2L), mRNA.	482						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			gccatagcttcagccggtccc	0.448000														12			25		0	0	1	0	0
OR4C15	81309	broad.mit.edu	37	11	55322726	55322726	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:55322726C>T	uc010rig.2	+	0	944	c.944C>T	c.(943-945)cCa>cTa	p.P315L		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 15 (OR4C15), mRNA.	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P315A(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						ACACGACCTCCATCTGCTTTT	0.393000										HNSCC(20;0.049)				104			48		0	0	1	0	0
POU5F1P4	645682	broad.mit.edu	37	1	155403369	155403369	+	RNA	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:155403369C>T	uc010pgc.1	-	0		c.105G>A			ASH1L_uc001fkt.3_Intron|ASH1L_uc009wqq.3_Intron|POU5F1P4_uc010pgd.2_Missense_Mutation_p.P126L					Homo sapiens partial mRNA for POU class 5 homeobox 1 pseudogene 4, clone BM-TAKA-09_AS.																		GAGCAAAACCCGCAGGAGTCC	0.567000														6			4		0	0	1	0	0
ZNF385D	79750	broad.mit.edu	37	3	21467054	21467054	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:21467054C>T	uc003cce.3	-	5	1190	c.782G>A	c.(781-783)gGc>gAc	p.G261D		NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	Homo sapiens zinc finger protein 385D (ZNF385D), mRNA.	261						nucleus	nucleic acid binding|zinc ion binding	p.T260S(1)		NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						ATTTTGGAGGCCTGTGTTTCC	0.428000														48			30		0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133539762	133539762	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:133539762C>T	uc002ttp.3	-	13	4996	c.4622G>A	c.(4621-4623)gGg>gAg	p.G1541E	NCKAP5_uc002ttq.3_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	1541							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GTTTCCAAACCCCAAGACTTT	0.393000														34			13		0	0	1	0	0
PIF1	80119	broad.mit.edu	37	15	65108936	65108936	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:65108936G>A	uc002ant.2	-	11	1769	c.1703C>T	c.(1702-1704)tCt>tTt	p.S568F	PIF1_uc002anr.2_Missense_Mutation_p.S116F|PIF1_uc002ans.2_Missense_Mutation_p.S259F|PIF1_uc010uiq.1_Missense_Mutation_p.S568F	NM_025049	NP_079325	Q9H611	PIF1_HUMAN	Homo sapiens PIF1 5'-to-3' DNA helicase homolog (S. cerevisiae) (PIF1), mRNA.	568	Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding			kidney(1)|lung(1)	2						ACGGCCCAGAGAAATCTCCAC	0.607000														36			16		0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77334253	77334253	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:77334253G>A	uc002ffc.4	-	16	3000	c.2581C>T	c.(2581-2583)Ccc>Tcc	p.P861S	ADAMTS18_uc010chc.1_Missense_Mutation_p.P449S|ADAMTS18_uc002ffe.1_Missense_Mutation_p.P557S	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	861	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						ATGACCTTGGGAAGTGCATAC	0.478000														47			30		0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117718657	117718657	+	Missense_Mutation	SNP	A	G	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:117718657A>G	uc001twn.2	-	7	2108	c.1397T>C	c.(1396-1398)aTa>aCa	p.I466T	NOS1_uc021ren.1_Missense_Mutation_p.I130T|NOS1_uc021reo.1_Missense_Mutation_p.I130T|NOS1_uc001twm.2_Missense_Mutation_p.I466T	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	466					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CTGGGGGAATATGGTGATGGC	0.622000														40			14		0	0	1	0	0
NXF2	56001	broad.mit.edu	37	X	101576780	101576780	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:101576780C>T	uc004eiv.4	+	26	3148	c.1276C>T	c.(1276-1278)Ccc>Tcc	p.P426S	NXF2_uc022cau.1_Missense_Mutation_p.P426S|NXF2_uc004eiw.4_Missense_Mutation_p.P338S|NXF2_uc004eix.4_Missense_Mutation_p.P426S	NM_001099686	NP_001093156	Q9GZY0	NXF2_HUMAN	Homo sapiens nuclear RNA export factor 2B (NXF2B), mRNA.	426	NTF2.				mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nuclear RNA export factor complex	RNA binding|nucleocytoplasmic transporter activity|nucleotide binding			endometrium(2)|lung(2)	4						CTTGGCTATTCCCTTCGACCC	0.577000														31			11		0	0	1	0	0
KIAA0664	23277	broad.mit.edu	37	17	2595331	2595331	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:2595331G>A	uc002fuy.1	-	22	3590	c.3504C>T	c.(3502-3504)caC>caT	p.H1168H	KIAA0664_uc002fux.1_Silent_p.H1101H|KIAA0664_uc010ckc.1_Silent_p.H154H	NM_015229	NP_056044	O75153	K0664_HUMAN	Homo sapiens KIAA0664 (KIAA0664), mRNA.	1168							binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|lung(6)|urinary_tract(3)	23						CCTCCTTCTCGTGCTGCAGGG	0.751000														9			7		0	0	1	0	0
P2RY2	5029	broad.mit.edu	37	11	72945537	72945537	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:72945537C>T	uc021qna.1	+	0	333	c.333C>T	c.(331-333)ttC>ttT	p.F111F	P2RY2_uc001otk.3_Silent_p.F111F|P2RY2_uc001otj.3_Silent_p.F111F|P2RY2_uc001otl.3_Silent_p.F111F	NM_176072	NP_788086	P41231	P2RY2_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 2 (P2RY2), transcript variant 1, mRNA.	111					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	TGGTGCGCTTCCTCTTCTACA	0.622000														46			34		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13850880	13850880	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:13850880G>A	uc003jfd.2	-	30	5037	c.4995C>T	c.(4993-4995)atC>atT	p.I1665I		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1665	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCCGAGTCATGATCTTCACCC	0.463000									Kartagener syndrome					59			19		0	0	1	0	0
ZHX2	22882	broad.mit.edu	37	8	123965716	123965716	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:123965716C>T	uc022bag.1	+	0	1966	c.1966C>T	c.(1966-1968)Cag>Tag	p.Q656*	ZHX2_uc003ypk.1_Nonsense_Mutation_p.Q656*	NM_014943	NP_055758	Q9Y6X8	ZHX2_HUMAN	Homo sapiens zinc fingers and homeoboxes 2 (ZHX2), mRNA.	656						cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			GCCTACTCCCCAGGAGTACGA	0.527000														69			21		0	0	1	0	0
TMPRSS11A	339967	broad.mit.edu	37	4	68788632	68788632	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:68788632C>T	uc003hdr.1	-	6	663	c.542G>A	c.(541-543)cGa>cAa	p.R181Q	LOC550112_uc003hdl.4_Intron|TMPRSS11A_uc003hds.1_Missense_Mutation_p.R178Q	NM_182606	NP_872412	Q6ZMR5	TM11A_HUMAN	Homo sapiens transmembrane protease, serine 11A (TMPRSS11A), transcript variant 1, mRNA.	181					cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						TGGAACAACTCGTTTACCACA	0.413000														38			24		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149517995	149517995	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:149517995C>T	uc010lpk.3	+	86	12329	c.12329C>T	c.(12328-12330)cCa>cTa	p.P4110L	SSPO_uc010lpm.1_5'Flank|SSPO_uc003wgg.2_5'Flank|SSPO_uc003wgh.2_5'Flank|SSPO_uc003wgi.1_5'Flank	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	4113					cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGCTGCGTGCCAATTGGGCAC	0.667000														27			17		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75086573	75086573	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:75086573G>A	uc001dgg.3	-	7	1064	c.845C>T	c.(844-846)tCc>tTc	p.S282F	CR627203_uc001dgh.3_Intron|C1orf173_uc001dgi.4_Missense_Mutation_p.S76F	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	282										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						ACTATGTAAGGATGTTTTATG	0.323000														18			9		0	0	1	0	0
FGFR4	2264	broad.mit.edu	37	5	176517793	176517793	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:176517793G>A	uc003mfl.3	+	3	570	c.403G>A	c.(403-405)Gac>Aac	p.D135N	FGFR4_uc003mfm.3_Missense_Mutation_p.D135N|FGFR4_uc011dfu.2_Missense_Mutation_p.D135N|FGFR4_uc011dfv.1_Non-coding_Transcript|FGFR4_uc003mfn.1_Missense_Mutation_p.D135N|FGFR4_uc011dfw.1_Missense_Mutation_p.D135N|FGFR4_uc003mfo.3_Missense_Mutation_p.D135N	NM_002011	NP_998812	P22455	FGFR4_HUMAN	Homo sapiens fibroblast growth factor receptor 4 (FGFR4), transcript variant 1, mRNA.	135					insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity	p.D135N(2)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	GTCCCATAGGGACCCCTCGAA	0.562000										TSP Lung(9;0.080)				40			16		0	0	1	0	0
AFF1	4299	broad.mit.edu	37	4	87968541	87968542	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:87968541_87968542CC>TT	uc011ccz.2	+	3	1129_1130	c.854_855CC>TT	c.(853-855)tcc>tTT	p.S285F	AFF1_uc011ccx.2_Missense_Mutation_p.S219F|AFF1_uc003hqh.2_Missense_Mutation_p.S285F|AFF1_uc011ccy.2_Missense_Mutation_p.S285F|AFF1_uc003hqj.4_Missense_Mutation_p.S278F|AFF1_uc003hqk.4_Missense_Mutation_p.S278F|AFF1_uc011cda.2_Intron	NM_001166693	NP_001160165	P51825	AFF1_HUMAN	Homo sapiens AF4/FMR2 family, member 1 (AFF1), transcript variant 1, mRNA.	278						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		CCACCTCCCTCCCTCCCCTCAA	0.550000														109			66		0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152329602	152329602	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:152329602C>T	uc001ezw.4	-	2	733	c.660G>A	c.(658-660)ggG>ggA	p.G220G	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	220	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CATACTCCTCCCCAGATTCCC	0.453000														161			75		0	0	1	0	0
TSIX	9383	broad.mit.edu	37	X	73045961	73045961	+	RNA	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:73045961G>A	uc004ebn.2	+	0		c.33922G>A			XIST_uc004ebm.1_Non-coding_Transcript					Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA.																		TAAGCTCAAAGAAGGAAGCTG	0.483000														15			23		0	0	1	0	0
KCNH3	23416	broad.mit.edu	37	12	49937233	49937233	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:49937233G>A	uc001ruh.1	+	4	1015	c.755G>A	c.(754-756)cGg>cAg	p.R252Q	KCNH3_uc010smj.1_Missense_Mutation_p.R192Q	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 3 (KCNH3), mRNA.	252					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						AGCACAGCACGGGAGCCCAGT	0.662000														28			25		0	0	1	0	0
DSG3	1830	broad.mit.edu	37	18	29039066	29039066	+	Missense_Mutation	SNP	T	C	C			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr18:29039066T>C	uc002kws.3	+	4	552	c.443T>C	c.(442-444)tTg>tCg	p.L148S		NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	148	Cadherin 1.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GTTAAAATTTTGGATATTAAT	0.353000														26			38		0	0	1	0	0
ZNF500	26048	broad.mit.edu	37	16	4802926	4802926	+	Silent	SNP	G	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:4802926G>T	uc002cxp.1	-	5	1141	c.894C>A	c.(892-894)gtC>gtA	p.V298V	ZNF500_uc002cxo.1_Silent_p.V90V|ZNF500_uc010uxt.1_Silent_p.V298V	NM_021646	NP_067678	O60304	ZN500_HUMAN	Homo sapiens zinc finger protein 500 (ZNF500), mRNA.	298					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	21						CCAAGCCCCTGACTGGGGCTG	0.672000														32			15		7.07596e-05	7.10348e-05	1	1	0
LIPE	3991	broad.mit.edu	37	19	42931279	42931279	+	Missense_Mutation	SNP	A	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:42931279A>T	uc002otr.3	-	0	300	c.23T>A	c.(22-24)gTg>gAg	p.V8E	AK311181_uc010eif.1_Intron|AK310497_uc002ott.1_Intron|AK310497_uc010eig.1_Intron|AK310497_uc010eih.1_Intron	NM_005357	NP_005348	Q05469	LIPS_HUMAN	Homo sapiens lipase, hormone-sensitive (LIPE), mRNA.	8					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				TGACCTAGACACTGACTTAGA	0.532000														21			15		0	0	1	0	0
C2orf47	79568	broad.mit.edu	37	2	200820786	200820786	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:200820786C>T	uc002uvm.3	+	1	587	c.265C>T	c.(265-267)Cct>Tct	p.P89S	TYW5_uc002uvj.4_5'Flank|TYW5_uc002uvi.4_5'Flank|TYW5_uc002uvk.4_5'Flank|TYW5_uc010fss.3_5'Flank|TYW5_uc002uvl.3_5'Flank	NM_024520	NP_078796	Q8WWC4	CB047_HUMAN	Homo sapiens chromosome 2 open reading frame 47 (C2orf47), mRNA.	89						mitochondrion				cervix(1)|endometrium(2)|large_intestine(1)|lung(5)	9						cgcttctttccctgcctgccc	0.647000														5			4		0	0	1	0	0
SBNO2	22904	broad.mit.edu	37	19	1116088	1116088	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:1116088G>A	uc002lrk.4	-	16	2055	c.1817C>T	c.(1816-1818)tCg>tTg	p.S606L	SBNO2_uc002lrj.4_Missense_Mutation_p.S549L|SBNO2_uc010dse.3_Missense_Mutation_p.S589L|SBNO2_uc010dsf.3_Missense_Mutation_p.S549L	NM_014963	NP_055778	Q9Y2G9	SBNO2_HUMAN	Homo sapiens strawberry notch homolog 2 (Drosophila) (SBNO2), transcript variant 1, mRNA.	606					macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGAATTAGCGACAGGAACAC	0.617000														37			21		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103143606	103143606	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:103143606G>A	uc022ajr.1	-	51	8506	c.8346C>T	c.(8344-8346)ttC>ttT	p.F2782F	RELN_uc022ajq.1_Silent_p.F2782F|RELN_uc010liz.3_Silent_p.F2782F	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	2782					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.F2782L(2)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AACTCACACCGAAGTCAGTAG	0.408000														56			42		0	0	1	0	0
SLC25A13	10165	broad.mit.edu	37	7	95813738	95813738	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:95813738G>A	uc003uog.4	-	10	1222	c.1031C>T	c.(1030-1032)gCc>gTc	p.A344V	SLC25A13_uc003uof.4_Missense_Mutation_p.A343V|SLC25A13_uc011kik.2_Missense_Mutation_p.A235V	NM_001160210	NP_001153682	Q9UJS0	CMC2_HUMAN	Homo sapiens solute carrier family 25, member 13 (citrin) (SLC25A13), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	343					ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|calcium ion binding			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	CACAGCAGTGGCTCCAACAGC	0.373000														23			10		0	0	1	0	0
EIF2C1	26523	broad.mit.edu	37	1	36367910	36367910	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:36367910C>T	uc001bzl.3	+	10	1582	c.1369C>T	c.(1369-1371)Caa>Taa	p.Q457*	EIF2C1_uc001bzk.3_Nonsense_Mutation_p.Q382*|EIF2C1_uc009vuy.3_Intron	NM_012199	NP_036331	Q9UL18	AGO1_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 1 (EIF2C1), mRNA.	457					negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome	RNA binding|protein binding			biliary_tract(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|prostate(1)|skin(6)|urinary_tract(1)	36		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTTCGCACCCCAAAAACAGTG	0.567000														35			17		0	0	1	0	0
SLC28A2	9153	broad.mit.edu	37	15	45560424	45560424	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:45560424C>T	uc001zva.2	+	12	1281	c.1216C>T	c.(1216-1218)Ctg>Ttg	p.L406L		NM_004212	NP_004203	O43868	S28A2_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 2 (SLC28A2), mRNA.	406					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)		GAGGAATGTCCTGGAAGCTGC	0.527000														46			25		0	0	1	0	0
TRPV6	55503	broad.mit.edu	37	7	142575428	142575428	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:142575428G>A	uc003wbx.2	-	2	554	c.325C>T	c.(325-327)Ccc>Tcc	p.P109S	TRPV6_uc003wbw.1_5'Flank|TRPV6_uc010lou.1_5'UTR	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.	109					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					GATGTCATGGGCTCAAAGACC	0.572000														144			30		0	0	1	0	0
E2F3	1871	broad.mit.edu	37	6	20490545	20490545	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:20490545C>T	uc003nda.2	+	6	1609	c.1282C>T	c.(1282-1284)Ccc>Tcc	p.P428S	E2F3_uc021ymj.1_Missense_Mutation_p.P297S	NM_001949	NP_001940	O00716	E2F3_HUMAN	Homo sapiens E2F transcription factor 3 (E2F3), transcript variant 1, mRNA.	428	Transactivation (Potential).				G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			CTTACTGCCTCCCCTGCTGCA	0.537000														41			40		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61844939	61844939	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:61844939G>A	uc001jky.3	-	30	4159	c.3821C>T	c.(3820-3822)tCc>tTc	p.S1274F	ANK3_uc001jkw.3_Missense_Mutation_p.S408F|ANK3_uc009xpa.3_Missense_Mutation_p.S408F|ANK3_uc001jkx.3_Missense_Mutation_p.S452F|ANK3_uc010qih.2_Missense_Mutation_p.S1275F|ANK3_uc001jkz.4_Missense_Mutation_p.S1268F|ANK3_uc001jla.1_Missense_Mutation_p.S340F|ANK3_uc001jlb.1_Missense_Mutation_p.S792F|ANK3_uc001jkv.3_5'Flank	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	1274					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GGTTGTAAAGGAGACACAATC	0.388000														38			16		0	0	1	0	0
CSF3	1440	broad.mit.edu	37	17	38172059	38172059	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:38172059G>A	uc002htp.3	+	1	270	c.156G>A	c.(154-156)agG>agA	p.R52R	CSF3_uc002hto.3_Silent_p.R52R|CSF3_uc002htq.3_Silent_p.R48R|CSF3_uc021tww.1_Silent_p.R52R|CSF3_uc021twx.1_Silent_p.R52R|CSF3_uc010wep.2_Silent_p.R48R	NM_000759	NP_000750	P09919	CSF3_HUMAN	Homo sapiens colony stimulating factor 3 (granulocyte) (CSF3), transcript variant 1, mRNA.	52					cytokine-mediated signaling pathway|granulocyte differentiation|immune response|positive regulation of cell proliferation	extracellular space	cytokine activity|enzyme binding|granulocyte colony-stimulating factor receptor binding|growth factor activity			endometrium(1)|ovary(1)|prostate(1)	3	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	AGCAAGTGAGGAAGATCCAGG	0.642000														13			7		0	0	1	0	0
KCNQ2	3785	broad.mit.edu	37	20	62039782	62039782	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr20:62039782C>T	uc002yey.1	-	15	2048	c.1871G>A	c.(1870-1872)gGg>gAg	p.G624E	KCNQ2_uc002yez.1_Missense_Mutation_p.G593E|KCNQ2_uc002yfa.1_Missense_Mutation_p.G606E|KCNQ2_uc002yfb.1_Missense_Mutation_p.G596E	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 2 (KCNQ2), transcript variant 1, mRNA.	624					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	CTCCACCTTCCCGAGCCGTCC	0.716000														6			7		0	0	1	0	0
POLE	5426	broad.mit.edu	37	12	133233743	133233743	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:133233743G>A	uc001uks.1	-	28	3605	c.3561C>T	c.(3559-3561)ttC>ttT	p.F1187F	POLE_uc001ukr.1_5'UTR|POLE_uc010tbq.1_Non-coding_Transcript|POLE_uc009zyu.1_Silent_p.F1160F	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	Homo sapiens polymerase (DNA directed), epsilon (POLE), mRNA.	1187					DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|chromatin binding|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		CCTCCAGGGTGAAGAGCTCAC	0.567000								DNA polymerases (catalytic subunits)						42			29		0	0	1	0	0
INA	9118	broad.mit.edu	37	10	105048127	105048127	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:105048127G>A	uc001kws.3	+	2	1250	c.1201G>A	c.(1201-1203)Gaa>Aaa	p.E401K		NM_032727	NP_116116	Q16352	AINX_HUMAN	Homo sapiens internexin neuronal intermediate filament protein, alpha (INA), mRNA.	401	Coil 2.|Rod.				cell differentiation|nervous system development	neurofilament	structural constituent of cytoskeleton			breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		GAAACTGCTGGAAGGCGAGGA	0.468000														58			30		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179486272	179486272	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:179486272G>A	uc021vsy.1	-	193	37800	c.37575C>T	c.(37573-37575)caC>caT	p.H12525H	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Silent_p.H6220H|TTN_uc021vta.1_Silent_p.H6153H|TTN_uc021vtb.1_Silent_p.H6028H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	13452	Ig-like 83.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATCCTCAAGGTGAGCGTTCT	0.418000														24			13		0	0	1	0	0
OR5M10	390167	broad.mit.edu	37	11	56344943	56344943	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:56344943G>A	uc001niz.1	-	0	255	c.255C>T	c.(253-255)ttC>ttT	p.F85F	OR8U8_uc001nit.2_Intron	NM_001004741	NP_001004741	Q6IEU7	OR5MA_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 10 (OR5M10), mRNA.	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						GTTCTGAGAGGAAATTGTGCA	0.433000														47			23		0	0	1	0	0
NETO1	81832	broad.mit.edu	37	18	70451069	70451069	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr18:70451069C>T	uc002lkw.3	-	6	996	c.712G>A	c.(712-714)Gat>Aat	p.D238N	NETO1_uc002lky.2_Missense_Mutation_p.D238N	NM_001201465	NP_001188394	Q8TDF5	NETO1_HUMAN	Homo sapiens neuropilin (NRP) and tolloid (TLL)-like 1 (NETO1), transcript variant 4, mRNA.	238	CUB 2.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		CTGCTTCCATCATACACAGCC	0.413000														192			63		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75038009	75038009	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:75038009C>T	uc001dgg.3	-	13	3604	c.3385G>A	c.(3385-3387)Gaa>Aaa	p.E1129K		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	1129	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						ACAGGTGCTTCGTTCTCAGCA	0.468000														30			17		0	0	1	0	0
GBA	2629	broad.mit.edu	37	1	155186322	155186322	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:155186322G>A	uc001fjd.3	-	5	747	c.603C>T	c.(601-603)ccC>ccT	p.P201P	GBA_uc001fjf.4_Silent_p.P162P|GBA_uc001fje.4_Silent_p.P123P			P04062	GLCM_HUMAN	Homo sapiens glucosidase, beta, acid pseudogene 1 (GBAP1), non-coding RNA.	284			H -> P (in GD).		carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of MAP kinase activity|negative regulation of interleukin-6 production|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Alglucerase(DB00088)|Imiglucerase(DB00053)	GGCACTGGAAGGGGTATCCAC	0.552000									Gaucher disease type I					27			18		0	0	1	0	0
XYLT1	64131	broad.mit.edu	37	16	17228461	17228461	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:17228461C>T	uc002dfa.3	-	8	1981	c.1896G>A	c.(1894-1896)gaG>gaA	p.E632E		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	Homo sapiens xylosyltransferase I (XYLT1), mRNA.	632					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|extracellular region|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CGTAGACATTCTCCCAGTAGG	0.582000														66			32		0	0	1	0	0
LRRC49	54839	broad.mit.edu	37	15	71305235	71305235	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:71305235C>T	uc010ukf.2	+	13	2007	c.1701C>T	c.(1699-1701)tcC>tcT	p.S567S	LRRC49_uc002asu.3_Silent_p.S552S|LRRC49_uc002asx.3_Silent_p.S518S|LRRC49_uc002asw.3_Silent_p.S562S|LRRC49_uc002asy.3_Silent_p.S268S|LRRC49_uc002asz.3_Silent_p.S534S	NM_001199017	NP_001185946	Q8IUZ0	LRC49_HUMAN	Homo sapiens leucine rich repeat containing 49 (LRRC49), transcript variant 1, mRNA.	562						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						GTCTGATTTCCATTCTGGGTG	0.373000														67			34		0	0	1	0	0
HRASLS2	54979	broad.mit.edu	37	11	63326096	63326096	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:63326096G>A	uc001nxg.1	-	2	214	c.155C>T	c.(154-156)tCt>tTt	p.S52F		NM_017878	NP_060348	Q9NWW9	HRSL2_HUMAN	Homo sapiens HRAS-like suppressor 2 (HRASLS2), mRNA.	52					lipid catabolic process	cytoplasm	acyltransferase activity|hydrolase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6						GGTCAGGGCAGACAGGACACT	0.557000														92			41		0	0	1	0	0
CYFIP2	26999	broad.mit.edu	37	5	156747771	156747771	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:156747771C>T	uc021ygm.1	+	14	1767	c.1629C>T	c.(1627-1629)atC>atT	p.I543I	CYFIP2_uc011ddn.2_Silent_p.I518I|CYFIP2_uc011ddo.2_Silent_p.I348I|CYFIP2_uc021ygn.1_Silent_p.I543I|CYFIP2_uc021ygo.1_Silent_p.I543I|CYFIP2_uc003lwt.3_Silent_p.I422I|CYFIP2_uc011ddp.2_Silent_p.I278I	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 2 (CYFIP2), transcript variant 1, mRNA.	544					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GATTTGATATCAAGGTGCCCC	0.602000														9			6		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9057364	9057364	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:9057364G>A	uc002mkp.3	-	2	30286	c.30082C>T	c.(30082-30084)Cct>Tct	p.P10028S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10030	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTCGTGACAGGTAAGGACAAC	0.458000														17			8		0	0	1	0	0
KCNJ5	3762	broad.mit.edu	37	11	128782030	128782030	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:128782030G>A	uc001qet.3	+	1	1176	c.862G>A	c.(862-864)Gag>Aag	p.E288K	KCNJ5_uc009zck.3_Missense_Mutation_p.E288K|KCNJ5_uc001qew.3_Missense_Mutation_p.E288K	NM_000890	NP_000881	P48544	IRK5_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 5 (KCNJ5), mRNA.	288					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	CCCTTTCTGGGAGATGTCTCA	0.537000														50			46		0	0	1	0	0
SYT16	83851	broad.mit.edu	37	14	62567222	62567222	+	Missense_Mutation	SNP	T	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:62567222T>A	uc001xfu.1	+	5	1932	c.1735T>A	c.(1735-1737)Ttc>Atc	p.F579I	SYT16_uc010tse.1_Missense_Mutation_p.F137I	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	Homo sapiens synaptotagmin XVI (SYT16), mRNA.	579	C2 2.									central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		GACCTTTGTTTTCCAGGTGGC	0.473000														19			9		0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10469216	10469216	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:10469216C>T	uc003wtc.3	-	3	2621	c.2392G>A	c.(2392-2394)Gac>Aac	p.D798N		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	798					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TGAGGCGTGTCCCTGGCCTCT	0.682000														15			29		0	0	1	0	0
SLC17A2	10246	broad.mit.edu	37	6	25921449	25921449	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:25921449C>T	uc011dkb.2	-	2	515	c.432G>A	c.(430-432)gtG>gtA	p.V144V	SLC17A2_uc011dkc.2_Silent_p.V144V|SLC17A2_uc003nfl.3_Silent_p.V144V			O00624	NPT3_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 2 (SLC17A2), mRNA.	144					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						TGACCAAAATCACTCCGAAGT	0.448000														129			30		0	0	1	0	0
CRNKL1	51340	broad.mit.edu	37	20	20033154	20033154	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr20:20033154C>T	uc002wrs.3	-	1	348	c.316G>A	c.(316-318)Gcc>Acc	p.A106T	C20orf26_uc010gcw.2_5'Flank|C20orf26_uc010zse.2_5'Flank|C20orf26_uc002wru.3_5'Flank|CRNKL1_uc002wrt.1_Missense_Mutation_p.A94T	NM_016652	NP_057736	Q9BZJ0	CRNL1_HUMAN	Homo sapiens crooked neck pre-mRNA splicing factor-like 1 (Drosophila) (CRNKL1), mRNA.	106					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						GTGACGGAGGCGGCACCGTTT	0.607000														35			12		0	0	1	0	0
KCNA10	3744	broad.mit.edu	37	1	111061227	111061227	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:111061227C>T	uc001dzt.1	-	0	571	c.183G>A	c.(181-183)acG>acA	p.T61T		NM_005549	NP_005540	Q16322	KCA10_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 10 (KCNA10), mRNA.	61						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity	p.T61T(2)|p.T61M(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		TGGAGAAGGCCGTCTCATGGT	0.582000														50			26		0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106815108	106815108	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:106815108C>T	uc003ymd.3	+	7	2821	c.2798C>T	c.(2797-2799)tCa>tTa	p.S933L	ZFPM2_uc011lhs.2_Missense_Mutation_p.S664L	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	933					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AACTTATTTTCATCCCACCTA	0.423000														7			16		0	0	1	0	0
MMP10	4319	broad.mit.edu	37	11	102649475	102649475	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:102649475C>T	uc001phg.2	-	3	539	c.502G>A	c.(502-504)Gga>Aga	p.G168R		NM_002425	NP_002416	P09238	MMP10_HUMAN	Homo sapiens matrix metallopeptidase 10 (stromelysin 2) (MMP10), mRNA.	168					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)		TAAAAGTCTCCATGTTCTGAT	0.378000														28			25		0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100350431	100350431	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:100350431C>T	uc003uwj.3	+	13	2868	c.2703C>T	c.(2701-2703)atC>atT	p.I901I	ZAN_uc003uwk.3_Silent_p.I901I|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	901	66 X heptapeptide repeats (approximate) (mucin-like domain).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AACTCACCATCCCCACAGAAA	0.507000														61			34		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196825573	196825573	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:196825573G>A	uc002utj.4	-	17	2403	c.2302C>T	c.(2302-2304)Cgt>Tgt	p.R768C		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	768	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCATAAAGACGAAGATAAGGG	0.403000														68			30		0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92762104	92762104	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:92762104C>T	uc003umh.1	-	4	4397	c.3181G>A	c.(3181-3183)Gct>Act	p.A1061T	SAMD9L_uc003umj.1_Missense_Mutation_p.A1061T|SAMD9L_uc003umi.1_Missense_Mutation_p.A1061T|SAMD9L_uc010lfb.1_Missense_Mutation_p.A1061T|SAMD9L_uc003umk.1_Missense_Mutation_p.A1061T|SAMD9L_uc010lfc.1_Missense_Mutation_p.A1061T|SAMD9L_uc010lfd.1_Missense_Mutation_p.A1061T|SAMD9L_uc022ahh.1_Missense_Mutation_p.A1061T	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	1061										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TTCTGTAAAGCTTCCATTAAT	0.383000														57			27		0	0	1	0	0
OR4M1	441670	broad.mit.edu	37	14	20248974	20248974	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:20248974C>T	uc010tku.2	+	0	493	c.493C>T	c.(493-495)Cga>Tga	p.R165*		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA.	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V164I(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCTCATTGTTCGACTTCCTTT	0.493000														165			43		0	0	1	0	0
TBX3	6926	broad.mit.edu	37	12	115117739	115117739	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:115117739C>T	uc001tvt.1	-	2	1660	c.696G>A	c.(694-696)ggG>ggA	p.G232G	TBX3_uc001tvu.1_Intron	NM_016569	NP_057653	O15119	TBX3_HUMAN	Homo sapiens T-box 3 (TBX3), transcript variant 2, mRNA.	232					anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		AACTATAATTCCCCTGCCACG	0.443000														42			24		0	0	1	0	0
CSF2RB	1439	broad.mit.edu	37	22	37333503	37333503	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr22:37333503G>A	uc003aqa.4	+	13	1870	c.1653G>A	c.(1651-1653)ggG>ggA	p.G551G	CSF2RB_uc003aqc.4_Silent_p.G557G	NM_000395	NP_000386	P32927	IL3RB_HUMAN	Homo sapiens colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) (CSF2RB), mRNA.	551					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	CACCATCTGGGCCTGACACGA	0.612000														17			32		0	0	1	0	0
WNT2B	7482	broad.mit.edu	37	1	113057509	113057509	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:113057509C>T	uc001ecb.3	+	1	711	c.196C>T	c.(196-198)Ctg>Ttg	p.L66L	WNT2B_uc001eca.3_Silent_p.L47L|WNT2B_uc009wgg.3_5'UTR	NM_024494	NP_078613	Q93097	WNT2B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 2B (WNT2B), transcript variant WNT-2B2, mRNA.	66					Wnt receptor signaling pathway, calcium modulating pathway|chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CATTGGGGCACTGGGGGCACG	0.567000														74			36		0	0	1	0	0
USP26	83844	broad.mit.edu	37	X	132160034	132160034	+	Missense_Mutation	SNP	T	G	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:132160034T>G	uc011mvf.2	-	0	2267	c.2215A>C	c.(2215-2217)Act>Cct	p.T739P	USP26_uc010nrm.1_Missense_Mutation_p.T739P	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	Homo sapiens ubiquitin specific peptidase 26 (USP26), mRNA.	739					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					CACTGCTGAGTCTGTTCAGAC	0.418000														13			36		0	0	1	0	0
AQP3	360	broad.mit.edu	37	9	33442887	33442887	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:33442887G>A	uc003zsx.3	-	3	558	c.455C>T	c.(454-456)tCt>tTt	p.S152F	AQP3_uc010mju.3_Missense_Mutation_p.S152F|AQP3_uc003zsv.2_3'UTR	NM_004925	NP_004916	Q92482	AQP3_HUMAN	Homo sapiens aquaporin 3 (Gill blood group) (AQP3), mRNA.	152					excretion|odontogenesis|positive regulation of immune system process|regulation of keratinocyte differentiation|response to calcium ion|response to retinoic acid|response to vitamin D	basolateral plasma membrane|cell-cell junction|cytoplasm	glycerol channel activity|water channel activity			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.0899)		CAAGTGTCCAGAGGGGTAGGT	0.552000														105			63		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89989980	89989980	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:89989980G>A	uc003kju.3	+	32	7503	c.7407G>A	c.(7405-7407)tgG>tgA	p.W2469*	GPR98_uc003kjt.3_Nonsense_Mutation_p.W175*|GPR98_uc003kjv.3_Nonsense_Mutation_p.W69*	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	2469					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGACATCATGGATCAGCCCAG	0.478000														8			5		0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	99932104	99932104	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:99932104C>T	uc001pga.3	+	9	1645	c.1141C>T	c.(1141-1143)Cgt>Tgt	p.R381C	CNTN5_uc009ywv.2_Missense_Mutation_p.R381C|CNTN5_uc001pfz.3_Missense_Mutation_p.R381C|CNTN5_uc021qpb.1_Missense_Mutation_p.R381C|CNTN5_uc021qpc.1_Missense_Mutation_p.R307C	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	381	Ig-like C2-type 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.R381L(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AAATTCCTTTCGTGGACAATT	0.393000														23			12		0	0	1	0	0
TRIM68	55128	broad.mit.edu	37	11	4621703	4621703	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:4621703G>A	uc001lzf.2	-	6	1551	c.1261C>T	c.(1261-1263)Cgc>Tgc	p.R421C	TRIM68_uc010qyj.2_Non-coding_Transcript	NM_018073	NP_060543	Q6AZZ1	TRI68_HUMAN	Homo sapiens tripartite motif containing 68 (TRIM68), mRNA.	421	B30.2/SPRY.				protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		CCCACCCGGCGAGGAGGGACC	0.537000														54			31		0	0	1	0	0
RGPD4	285190	broad.mit.edu	37	2	108476242	108476242	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:108476242G>A	uc010ywk.2	+	11	1781	c.1699G>A	c.(1699-1701)Gaa>Aaa	p.E567K	RGPD4_uc002tdu.3_5'UTR|RGPD4_uc010ywl.2_Non-coding_Transcript	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	567					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						AAGAGCCCAGGAAAAACATGG	0.338000														47			21		0	0	1	0	0
C4orf17	84103	broad.mit.edu	37	4	100463110	100463110	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:100463110G>A	uc003huw.3	+	8	1286	c.924G>A	c.(922-924)atG>atA	p.M308I	C4orf17_uc003hux.3_Non-coding_Transcript	NM_032149	NP_115525	Q53FE4	CD017_HUMAN	Homo sapiens chromosome 4 open reading frame 17 (C4orf17), mRNA.	308										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		GAAATAATATGAAAATACCTG	0.388000														32			4		0	0	1	0	0
KIF18B	146909	broad.mit.edu	37	17	43005579	43005579	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:43005579G>A	uc010wji.2	-	12	2201	c.2100C>T	c.(2098-2100)agC>agT	p.S700S	KIF18B_uc002iht.3_Silent_p.S709S|KIF18B_uc010wjh.2_Silent_p.S697S	NM_001080443	NP_001073912			Homo sapiens kinesin family member 18B (KIF18B), mRNA.											breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				GGGGCACCCGGCTTTTGATGA	0.637000														10			10		0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56465910	56465910	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:56465910C>T	uc002qmh.3	+	2	557	c.486C>T	c.(484-486)ttC>ttT	p.F162F	NLRP8_uc010etg.3_Silent_p.F162F	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	162						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		AAAAGTTTTTCCCCATATGGG	0.443000														53			34		0	0	1	0	0
BIN2	51411	broad.mit.edu	37	12	51685634	51685634	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:51685634G>A	uc001ryg.3	-	9	1308	c.1256C>T	c.(1255-1257)cCa>cTa	p.P419L	BIN2_uc009zlz.3_Missense_Mutation_p.P387L|BIN2_uc001ryh.3_Missense_Mutation_p.P295L|BIN2_uc010sng.2_Missense_Mutation_p.P393L	NM_016293	NP_057377	Q9UBW5	BIN2_HUMAN	Homo sapiens bridging integrator 2 (BIN2), mRNA.	419	Pro-rich.					cytoplasm	protein binding			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						GGCTCTGGGTGGAGGAGGCCT	0.607000														25			22		0	0	1	0	0
DBC1	1620	broad.mit.edu	37	9	121976282	121976282	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:121976282G>A	uc004bkc.2	-	5	1293	c.837C>T	c.(835-837)ccC>ccT	p.P279P	DBC1_uc004bkd.2_Silent_p.P279P	NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	279					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						TGTCCGTGATGGGGCAGTTGC	0.547000														62			26		0	0	1	0	0
MALAT1	378938	broad.mit.edu	37	11	65266481	65266481	+	RNA	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:65266481C>T	uc010roh.2	+	0		c.1249C>T								Homo sapiens metastasis associated lung adenocarcinoma transcript 1 (non-protein coding) (MALAT1), non-coding RNA.																		GAGTTGTTCTCCGTCTATAAA	0.537000														117			49		0	0	1	0	0
CLEC4F	165530	broad.mit.edu	37	2	71044147	71044147	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:71044147C>T	uc002shf.3	-	3	443	c.366G>A	c.(364-366)caG>caA	p.Q122Q	CLEC4F_uc010yqv.1_Silent_p.Q122Q	NM_173535	NP_775806	Q8N1N0	CLC4F_HUMAN	Homo sapiens C-type lectin domain family 4, member F (CLEC4F), mRNA.	122					endocytosis	integral to membrane	receptor activity|sugar binding	p.I121I(1)		endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						ACTTCAACATCTGGATTTCTA	0.483000														47			28		0	0	1	0	0
OR8B3	390271	broad.mit.edu	37	11	124267095	124267095	+	Silent	SNP	T	C	C			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:124267095T>C	uc010saj.2	-	0	153	c.153A>G	c.(151-153)ctA>ctG	p.L51L	OR8B2_uc001qab.3_Intron	NM_001005467	NP_001005467	Q8NGG8	OR8B3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 3 (OR8B3), mRNA.	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		GGTGAGAATTTAGACCGAAAA	0.423000														63			52		0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21857904	21857904	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:21857904G>A	uc003svc.3	+	65	10690	c.10659G>A	c.(10657-10659)acG>acA	p.T3553T		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	3553	AAA 5 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TCGAGGAAACGATAGATCCAG	0.323000									Kartagener syndrome					22			20		0	0	1	0	0
UBE3C	9690	broad.mit.edu	37	7	157049715	157049715	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:157049715C>T	uc010lqs.3	+	21	3370	c.3058C>T	c.(3058-3060)Cga>Tga	p.R1020*	UBE3C_uc003wni.4_Nonsense_Mutation_p.R383*	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	Homo sapiens ubiquitin protein ligase E3C (UBE3C), mRNA.	1020	HECT.				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		AAGCTGCTCTCGACCCCCTCT	0.423000														46			65		0	0	1	0	0
GALNT6	11226	broad.mit.edu	37	12	51773085	51773085	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:51773085G>A	uc001ryk.2	-	1	706	c.481C>T	c.(481-483)Cga>Tga	p.R161*	GALNT6_uc009zma.1_Non-coding_Transcript|GALNT6_uc001ryl.1_Nonsense_Mutation_p.R161*|GALNT6_uc010snh.1_Nonsense_Mutation_p.R161*	NM_007210	NP_009141	Q8NCL4	GALT6_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) (GALNT6), mRNA.	161					protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.R161L(1)		endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TCAGGTGGTCGGGTGTCTGGC	0.567000														8			19		0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101336209	101336209	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:101336209C>T	uc010svm.1	+	4	924	c.352C>T	c.(352-354)Cga>Tga	p.R118*	ANO4_uc010svl.1_Non-coding_Transcript|ANO4_uc001thw.2_Nonsense_Mutation_p.R83*|ANO4_uc001thx.2_Nonsense_Mutation_p.R118*	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	118						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TGGAAAGTGTCGAATTGACTA	0.383000										HNSCC(74;0.22)				72			54		0	0	1	0	0
OR2H1	26716	broad.mit.edu	37	6	29430476	29430476	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:29430476G>A	uc003nmi.3	+	2	1373	c.930G>A	c.(928-930)agG>agA	p.R310R	OR2H1_uc003nmj.1_Silent_p.R310R|OR2H1_uc010jri.2_Silent_p.R232R|OR2H1_uc021ytr.1_Silent_p.R310R	NM_030883	NP_112145	Q9GZK4	OR2H1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily H, member 1 (OR2H1), mRNA.	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(12)	17						GAGACTCCAGGGAAAGCTGGA	0.438000														39			10		0	0	1	0	0
UMOD	7369	broad.mit.edu	37	16	20362025	20362025	+	Missense_Mutation	SNP	A	G	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:20362025A>G	uc002dhb.3	-	1	164	c.35T>C	c.(34-36)gTg>gCg	p.V12A	UMOD_uc002dgz.3_Missense_Mutation_p.V12A|UMOD_uc002dha.3_Missense_Mutation_p.V12A	NM_003361	NP_003352	P07911	UROM_HUMAN	Homo sapiens uromodulin (UMOD), transcript variant 1, mRNA.	12					cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GGCCACCACCACCATCAGCAT	0.517000														30			15		0	0	1	0	0
SETD7	80854	broad.mit.edu	37	4	140432990	140432990	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:140432990G>A	uc003ihw.3	-	7	1214	c.928C>T	c.(928-930)Cac>Tac	p.H310Y		NM_030648	NP_085151	Q8WTS6	SETD7_HUMAN	Homo sapiens SET domain containing (lysine methyltransferase) 7 (SETD7), mRNA.	310	SET.				peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8	all_hematologic(180;0.156)					AAACGGGGGTGGACAAACCTA	0.587000														53			20		0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	119028185	119028185	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:119028185G>A	uc004bjn.3	+	7	3163	c.2782G>A	c.(2782-2784)Gga>Aga	p.G928R	PAPPA_uc011lxp.1_Missense_Mutation_p.G623R|PAPPA_uc011lxq.2_Missense_Mutation_p.G303R	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	928					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						AACTATTTCAGGAACTGAAGA	0.388000														32			19		0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7669782	7669782	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:7669782C>T	uc002giu.1	+	20	3672	c.3658C>T	c.(3658-3660)Ctt>Ttt	p.L1220F		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	1220	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CTCCAAGGACCTTCAGAACCT	0.572000														37			11		0	0	1	0	0
FAM171A1	221061	broad.mit.edu	37	10	15255111	15255111	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:15255111C>T	uc001iob.3	-	7	2483	c.2476G>A	c.(2476-2478)Ggc>Agc	p.G826S		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	Homo sapiens family with sequence similarity 171, member A1 (FAM171A1), mRNA.	826						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						GGCAGCTGGCCACCACTTCTC	0.647000														39			18		0	0	1	0	0
SPG11	80208	broad.mit.edu	37	15	44888545	44888545	+	Silent	SNP	G	A	A	rs144333328	by1000genomes	TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:44888545G>A	uc001ztx.3	-	24	4201	c.4170C>T	c.(4168-4170)tcC>tcT	p.S1390S	SPG11_uc010ueh.2_Silent_p.S1390S|SPG11_uc010uei.2_Silent_p.S1390S|SPG11_uc001zty.1_Silent_p.S119S	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN	Homo sapiens spastic paraplegia 11 (autosomal recessive) (SPG11), transcript variant 1, mRNA.	1390					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		ACTGGATAAGGGATTTCACCT	0.428000														24			11		0	0	1	0	0
OR5D13	390142	broad.mit.edu	37	11	55541810	55541810	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:55541810C>T	uc010ril.2	+	0	897	c.897C>T	c.(895-897)atC>atT	p.I299I		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 13 (OR5D13), mRNA.	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I299I(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				ACAAAGATATCAATAACATGT	0.338000														29			11		0	0	1	0	0
SLC43A1	8501	broad.mit.edu	37	11	57261476	57261476	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:57261476G>A	uc001nkk.3	-	7	979	c.861C>T	c.(859-861)aaC>aaT	p.N287N	SLC43A1_uc001nkl.3_Silent_p.N287N	NM_001198810	NP_001185739	O75387	LAT3_HUMAN	Homo sapiens solute carrier family 43, member 1 (SLC43A1), transcript variant 2, mRNA.	287					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	neutral amino acid transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						TCTCAGGAAGGTTTTCTGAGG	0.567000											OREG0020651	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		37			24		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179650797	179650797	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:179650797C>T	uc021vsy.1	-	13	2373	c.2148G>A	c.(2146-2148)gaG>gaA	p.E716E	TTN_uc021vsz.1_Silent_p.E670E|TTN_uc021vta.1_Silent_p.E670E|TTN_uc021vtb.1_Silent_p.E670E|TTN_uc002unb.2_Silent_p.E716E|TTN_uc010frg.1_Silent_p.E298E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	716							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTCTCTGGGCTCTCTGACTC	0.507000														26			11		0	0	1	0	0
KCNT1	57582	broad.mit.edu	37	9	138647015	138647015	+	Splice_Site	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:138647015G>A	uc011mdq.2	+	6	614	c.540_splice	c.e6+1	p.Q180_splice	KCNT1_uc011mdr.2_Splice_Site_p.Q7_splice|KCNT1_uc010nbf.3_Splice_Site_p.Q132_splice|KCNT1_uc004cgo.1_Splice_Site	NM_020822	NP_065873	B7ZVY4	B7ZVY4_HUMAN	Homo sapiens potassium channel, subfamily T, member 1 (KCNT1), mRNA.	180						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		GGGCGATCCAGGTGAGTGCCC	0.597000														23			16		0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	71029727	71029727	+	Nonsense_Mutation	SNP	T	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:71029727T>A	uc001swc.4	-	1	220	c.175A>T	c.(175-177)Aag>Tag	p.K59*	PTPRB_uc001swa.4_Nonsense_Mutation_p.K59*|PTPRB_uc001swd.4_Nonsense_Mutation_p.K58*|PTPRB_uc009zrr.2_Nonsense_Mutation_p.K59*|PTPRB_uc001swe.3_Nonsense_Mutation_p.K59*	NM_001109754	NP_001103224	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 1, mRNA.	0	Fibronectin type-III 1.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TGAAGGAGCTTTTCATCCTCA	0.537000														14			9		0	0	1	0	0
APOBEC2	10930	broad.mit.edu	37	6	41029198	41029198	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:41029198G>A	uc003opl.3	+	1	410	c.263G>A	c.(262-264)gGa>gAa	p.G88E	UNC5CL_uc010jxe.1_Intron|APOBEC2_uc010jxf.3_Intron	NM_006789	NP_006780	Q9Y235	ABEC2_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2 (APOBEC2), mRNA.	88					DNA demethylation|mRNA processing		RNA binding|cytidine deaminase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)	10	Ovarian(28;0.0418)|Colorectal(47;0.196)					GCATCTCGGGGATACCTAGAG	0.577000														58			85		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82784609	82784609	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:82784609G>A	uc003uhx.2	-	1	1637	c.1348C>T	c.(1348-1350)Cca>Tca	p.P450S	PCLO_uc003uhv.2_Missense_Mutation_p.P450S	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	401	10 X 10 AA tandem approximate repeats of P-A-K-P-Q-P-Q-Q-P-X.|Gln-rich.|Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGTTGAGCTGGAATCTTTCCT	0.577000														32			16		0	0	1	0	0
NRK	203447	broad.mit.edu	37	X	105193708	105193708	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:105193708G>A	uc004emd.3	+	26	4795	c.4492G>A	c.(4492-4494)Gac>Aac	p.D1498N	NRK_uc011msi.2_Missense_Mutation_p.D80N	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Homo sapiens Nik related kinase (NRK), mRNA.	1499	CNH.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						AATGTGGAAAGACATACCATC	0.383000										HNSCC(51;0.14)				2			10		0	0	1	0	0
OR1F1	4992	broad.mit.edu	37	16	3254943	3254943	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:3254943G>A	uc010uwu.2	+	0	697	c.697G>A	c.(697-699)Gga>Aga	p.G233R		NM_012360	NP_036492	O43749	OR1F1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily F, member 1 (OR1F1), mRNA.	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						ATCCACAAAGGGAAGGTGGAA	0.512000														67			41		0	0	1	0	0
ZNF135	7694	broad.mit.edu	37	19	58579062	58579062	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:58579062C>T	uc002qrg.3	+	3	1285	c.1282C>T	c.(1282-1284)Cac>Tac	p.H428Y	ZNF135_uc002qre.3_Missense_Mutation_p.H404Y|ZNF135_uc002qrf.3_Missense_Mutation_p.H362Y|ZNF135_uc010yhq.2_Missense_Mutation_p.H416Y|ZNF135_uc010yhr.2_Missense_Mutation_p.H225Y|ZNF135_uc002qrd.2_Intron|ZNF135_uc021vcu.1_3'UTR	NM_007134	NP_009065	B4DHH9	B4DHH9_HUMAN	Homo sapiens zinc finger protein 135 (ZNF135), transcript variant 1, mRNA.	416					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		CCAGAGGACCCACACAGGAGA	0.547000														52			16		0	0	1	0	0
HAPLN1	1404	broad.mit.edu	37	5	82940480	82940480	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:82940480C>T	uc003kim.3	-	2	548	c.477G>A	c.(475-477)gtG>gtA	p.V159V	HAPLN1_uc003kin.3_Silent_p.V159V	NM_001884	NP_001875	P10915	HPLN1_HUMAN	Homo sapiens hyaluronan and proteoglycan link protein 1 (HAPLN1), mRNA.	159	Link 1.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		AAGGGAATACCACACCTGTCC	0.512000														12			11		0	0	1	0	0
CHGB	1114	broad.mit.edu	37	20	5904360	5904360	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr20:5904360C>T	uc002wmg.3	+	3	1876	c.1570C>T	c.(1570-1572)Cca>Tca	p.P524S	CHGB_uc010zqz.2_Missense_Mutation_p.P207S	NM_001819	NP_001810	P05060	SCG1_HUMAN	Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.	524						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						ACTGTTCAACCCATACTACGA	0.438000														39			19		0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11384921	11384921	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:11384921G>A	uc003jfa.1	-	6	1178	c.1033C>T	c.(1033-1035)Ccc>Tcc	p.P345S	CTNND2_uc010itt.2_Missense_Mutation_p.P254S|CTNND2_uc011cmy.1_Intron|CTNND2_uc011cmz.1_Intron|CTNND2_uc010itu.1_Intron|CTNND2_uc011cmx.1_5'UTR	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	345					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.S344W(1)|p.P345P(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TGGTGGATGGGCGAGGAGGAG	0.677000														12			6		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7585365	7585365	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:7585365G>A	uc003mxp.1	+	23	8149	c.7870G>A	c.(7870-7872)Gac>Aac	p.D2624N	DSP_uc003mxq.1_Missense_Mutation_p.D2025N|DSP_uc021yle.1_Missense_Mutation_p.D2181N	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	2624	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AGCCATCTTTGACACAGAAAA	0.493000														78			54		0	0	1	0	0
SERPINB13	5275	broad.mit.edu	37	18	61262348	61262349	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr18:61262348_61262349GG>AA	uc010xep.2	+	6	896_897	c.728_729GG>AA	c.(727-729)ggg>gAA	p.G243E	SERPINB13_uc002ljc.3_Missense_Mutation_p.G234E|SERPINB13_uc002ljd.3_Missense_Mutation_p.G98E|SERPINB13_uc010xeq.2_Missense_Mutation_p.G55E|SERPINB13_uc010xer.2_Missense_Mutation_p.G55E	NM_012397	NP_036529	Q9UIV8	SPB13_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 13 (SERPINB13), mRNA.	234					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						AAAATTCTAGGGATTCCATATA	0.426000														46			59		0	0	1	0	0
VANGL2	57216	broad.mit.edu	37	1	160388939	160388940	+	Missense_Mutation	DNP	AC	TT	TT			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:160388939_160388940AC>TT	uc001fwb.2	+	4	639_640	c.340_341AC>TT	c.(340-342)acc>TTc	p.T114F	VANGL2_uc001fwc.2_Missense_Mutation_p.T114F	NM_020335	NP_065068	Q9ULK5	VANG2_HUMAN	Homo sapiens vang-like 2 (van gogh, Drosophila) (VANGL2), mRNA.	114					apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGCGGGGGCCACCCTGGCACTG	0.668000														47			27		0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48613161	48613161	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:48613161G>A	uc003ctz.2	-	71	5878	c.5877C>T	c.(5875-5877)atC>atT	p.I1959I		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	1959	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGGTCTCCACGATCTCCCGCA	0.682000														34			13		0	0	1	0	0
PYHIN1	149628	broad.mit.edu	37	1	158908894	158908894	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:158908894G>T	uc001ftb.3	+	3	686	c.436G>T	c.(436-438)Gag>Tag	p.E146*	PYHIN1_uc001fta.4_Nonsense_Mutation_p.E146*|PYHIN1_uc001ftc.3_Nonsense_Mutation_p.E137*|PYHIN1_uc001ftd.3_Nonsense_Mutation_p.E146*|PYHIN1_uc001fte.3_Nonsense_Mutation_p.E137*	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN	Homo sapiens pyrin and HIN domain family, member 1 (PYHIN1), transcript variant 1, mRNA.	146					cell cycle	nuclear speck		p.E146G(1)		breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					ATCTGAAGAAGAGACTGGAAC	0.438000														21			12		7.03913e-09	7.10102e-09	1	1	0
ACSM2B	348158	broad.mit.edu	37	16	20559726	20559726	+	Missense_Mutation	SNP	C	T	T	rs138313532	byFrequency	TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:20559726C>T	uc002dhj.4	-	7	1174	c.964G>A	c.(964-966)Gat>Aat	p.D322N	ACSM2B_uc002dhk.4_Missense_Mutation_p.D322N|ACSM2B_uc010bwf.1_Missense_Mutation_p.D322N	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	322					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CTGGAAAGATCCTGCTGTAGC	0.493000														59			33		0	0	1	0	0
SCML2	10389	broad.mit.edu	37	X	18260595	18260595	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:18260595C>T	uc004cyl.2	-	13	2095	c.1938G>A	c.(1936-1938)caG>caA	p.Q646Q	SCML2_uc004cyk.3_Non-coding_Transcript|SCML2_uc010nfd.1_Intron|SCML2_uc011miz.1_Intron|SCML2_uc010nfc.2_Intron	NM_006089	NP_006080	Q9UQR0	SCML2_HUMAN	Homo sapiens sex comb on midleg-like 2 (Drosophila) (SCML2), transcript variant 1, mRNA.	646	SAM.				anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					GGCCTGATATCTGAGGATCTG	0.483000														14			28		0	0	1	0	0
PRSS12	8492	broad.mit.edu	37	4	119273766	119273766	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:119273766G>A	uc003ica.2	-	0	157	c.110C>T	c.(109-111)cCc>cTc	p.P37L		NM_003619	NP_003610	P56730	NETR_HUMAN	Homo sapiens protease, serine, 12 (neurotrypsin, motopsin) (PRSS12), mRNA.	37	Pro-rich.					membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						ACCCGCAGGGGGCGAATGGCG	0.697000														8			4		0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	A	A	rs121913499		TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:209113113G>A	uc002vcs.3	-	3	640	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_uc002vct.3_Missense_Mutation_p.R132C|IDH1_uc002vcu.3_Missense_Mutation_p.R132C	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(3651)|p.R132C(1036)|p.R132G(298)|p.R132S(246)|p.R132?(189)|p.R132L(71)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398000			Mis		gliobastoma									49			20		0	0	1	0	0
TLR5	7100	broad.mit.edu	37	1	223284787	223284787	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:223284787C>T	uc021pjl.1	-	0	1587	c.1587G>A	c.(1585-1587)agG>agA	p.R529R	TLR5_uc001hnv.2_Silent_p.R529R|TLR5_uc001hnw.2_Silent_p.R529R	NM_003268	NP_003259	O60602	TLR5_HUMAN	Homo sapiens toll-like receptor 5 (TLR5), mRNA.	529			Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1).		MyD88-dependent toll-like receptor signaling pathway|cellular response to mechanical stimulus|inflammatory response|innate immune response|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		GGCTTAGTCCCCTTAATGCAG	0.413000														65			37		0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858202	9858202	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:9858202G>A	uc010uym.2	-	13	3509	c.3199C>T	c.(3199-3201)Cgg>Tgg	p.R1067W	GRIN2A_uc002czo.4_Missense_Mutation_p.R1067W|GRIN2A_uc010uyn.2_Missense_Mutation_p.R910W|GRIN2A_uc002czr.4_Missense_Mutation_p.R1067W	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1067					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.R1067W(2)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CACGTGGCCCGATTTGACGTT	0.498000														24			62		0	0	1	0	0
ZNF260	339324	broad.mit.edu	37	19	37005760	37005760	+	Silent	SNP	C	T	T	rs57678022	byFrequency	TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:37005760C>T	uc002oee.2	-	3	1303	c.381G>A	c.(379-381)caG>caA	p.Q127Q	ZNF260_uc010eey.2_Silent_p.Q127Q|ZNF260_uc002oef.2_Silent_p.Q127Q|ZNF260_uc002oed.2_Silent_p.Q127Q|ZNF260_uc021uti.1_Silent_p.Q127Q	NM_001012756	NP_001159510	Q3ZCT1	ZN260_HUMAN	Homo sapiens zinc finger protein 260 (ZNF260), transcript variant 1, mRNA.	127					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15	Esophageal squamous(110;0.162)					TATGATTTTTCTGGTGTCTGA	0.393000														93			38		0	0	1	0	0
MTOR	2475	broad.mit.edu	37	1	11300494	11300494	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:11300494G>A	uc001asd.3	-	10	1773	c.1652C>T	c.(1651-1653)cCc>cTc	p.P551L		NM_004958	NP_004949	P42345	MTOR_HUMAN	Homo sapiens mechanistic target of rapamycin (serine/threonine kinase) (MTOR), mRNA.	551					T cell costimulation|TOR signaling cascade|cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient	Golgi membrane|PML body|TORC1 complex|TORC2 complex|endoplasmic reticulum membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						GTGGCGAAGGGGTTTGTGCAT	0.582000														41			34		0	0	1	0	0
CD8B	926	broad.mit.edu	37	2	87073875	87073875	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:87073875G>A	uc002srw.3	-	3	574	c.515C>T	c.(514-516)aCc>aTc	p.T172I	RMND5A_uc002srs.4_Intron|CD8B_uc002srx.3_Missense_Mutation_p.T172I|CD8B_uc002sry.3_Intron|CD8B_uc010fgt.3_Intron|CD8B_uc002srz.3_Missense_Mutation_p.T172I|CD8B_uc010yto.2_Missense_Mutation_p.T172I	NM_172213	NP_757362	P10966	CD8B_HUMAN	Homo sapiens CD8b molecule (CD8B), transcript variant 2, mRNA.	172					T cell activation|immune response|regulation of defense response to virus by virus|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway|viral reproduction	T cell receptor complex|early endosome|extracellular region|integral to plasma membrane	MHC class I protein binding|coreceptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	13						CAGGCCAAGGGTGATGGGGCT	0.532000														7			8		0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32913053	32913053	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr13:32913053C>T	uc001uub.1	+	10	4788	c.4561C>T	c.(4561-4563)Cta>Tta	p.L1521L		NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	1521					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AGAACCTACTCTATTGGGTTT	0.383000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)				43			22		0	0	1	0	0
C3orf32	51066	broad.mit.edu	37	3	8675373	8675373	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:8675373C>T	uc011atg.2	-	3	358	c.318G>A	c.(316-318)ctG>ctA	p.L106L	C3orf32_uc003bqz.3_Silent_p.L84L|C3orf32_uc003bqt.3_Silent_p.L33L|C3orf32_uc003bqu.3_Silent_p.L84L|C3orf32_uc003bqv.3_Silent_p.L33L|C3orf32_uc003bqx.3_Non-coding_Transcript|C3orf32_uc003bqy.3_Silent_p.L84L	NM_015931	NP_057015	Q9Y2M2	CC032_HUMAN	Homo sapiens chromosome 3 open reading frame 32 (C3orf32), mRNA.	84										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	14						TCTGCCGCTTCAGCTCCTGGA	0.672000														14			7		0	0	1	0	0
SPAM1	6677	broad.mit.edu	37	7	123599666	123599666	+	Silent	SNP	C	T	T	rs141795729		TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:123599666C>T	uc003vle.3	+	4	1612	c.1173C>T	c.(1171-1173)aaC>aaT	p.N391N	SPAM1_uc011koa.1_Silent_p.N47N|SPAM1_uc003vld.3_Silent_p.N391N|SPAM1_uc022aks.1_Silent_p.N391N|SPAM1_uc003vlf.4_Silent_p.N391N|SPAM1_uc010lku.3_Silent_p.N391N	NM_003117	NP_003108	P38567	HYALP_HUMAN	Homo sapiens sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) (SPAM1), transcript variant 1, mRNA.	391					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	TAAGGAAAAACTGGAATTCAA	0.413000														116			27		0	0	1	0	0
CD209	30835	broad.mit.edu	37	19	7810767	7810767	+	Missense_Mutation	SNP	G	A	A	rs146082308		TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:7810767G>A	uc002mht.2	-	3	452	c.385C>T	c.(385-387)Cgg>Tgg	p.R129W	CD209_uc010xju.1_Intron|CD209_uc010dvp.2_Missense_Mutation_p.R105W|CD209_uc002mhr.2_Missense_Mutation_p.R105W|CD209_uc002mhs.2_Missense_Mutation_p.R105W|CD209_uc002mhu.2_Missense_Mutation_p.R129W|CD209_uc010dvq.2_Missense_Mutation_p.R129W|CD209_uc002mhq.2_Missense_Mutation_p.R129W|CD209_uc002mhv.2_Missense_Mutation_p.R105W|CD209_uc002mhx.2_Missense_Mutation_p.R85W|CD209_uc002mhw.2_Missense_Mutation_p.R85W|CD209_uc010dvr.2_Intron	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN	Homo sapiens CD209 molecule (CD209), transcript variant 1, mRNA.	129	7 X approximate tandem repeats.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	p.R129W(6)|p.T128T(1)|p.R129R(1)		endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCCTTCAGCCGGGTCAGCTCC	0.567000														145			5		0	0	1	0	0
SGTA	6449	broad.mit.edu	37	19	2759288	2759288	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:2759288G>A	uc002lwi.1	-	8	851	c.704C>T	c.(703-705)tCg>tTg	p.S235L		NM_003021	NP_003012	O43765	SGTA_HUMAN	Homo sapiens small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha (SGTA), mRNA.	235					interspecies interaction between organisms	cytoplasm	protein binding			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CATTAGGTTCGAAGCCTGAAG	0.428000														72			46		0	0	1	0	0
HGF	3082	broad.mit.edu	37	7	81381435	81381435	+	Splice_Site	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:81381435C>T	uc003uhl.3	-	5	790	c.625_splice	c.e5+1	p.V209_splice	HGF_uc003uhm.3_Splice_Site_p.V204_splice|HGF_uc003uhn.1_Splice_Site_p.V209_splice|HGF_uc003uho.1_Splice_Site_p.V204_splice|HGF_uc003uhp.3_Missense_Mutation_p.G209D	NM_000601	NP_000592	P14210	HGF_HUMAN	Homo sapiens hepatocyte growth factor (hepapoietin A; scatter factor) (HGF), transcript variant 1, mRNA.	209					epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						GGTTTATTTACCTTCTGAACA	0.438000														45			17		0	0	1	0	0
CYP2C19	1557	broad.mit.edu	37	10	96534825	96534825	+	Missense_Mutation	SNP	T	G	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:96534825T>G	uc010qnz.2	+	1	179	c.179T>G	c.(178-180)aTc>aGc	p.I60S	CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_Missense_Mutation_p.I38S	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	60					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	CTCTCAAAAATCTATGGCCCT	0.413000														34			20		0	0	1	0	0
RBFOX1	54715	broad.mit.edu	37	16	7714948	7714948	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:7714948G>A	uc002cys.2	+	12	1896	c.908G>A	c.(907-909)gGa>gAa	p.G303E	RBFOX1_uc002cyt.2_Missense_Mutation_p.G276E|RBFOX1_uc010uxz.1_Missense_Mutation_p.G346E|RBFOX1_uc010uya.1_Missense_Mutation_p.G260E|RBFOX1_uc010uyb.1_Missense_Mutation_p.G303E|RBFOX1_uc002cyw.2_Intron|RBFOX1_uc002cyy.2_Intron|RBFOX1_uc002cyx.2_Intron|RBFOX1_uc010uyc.1_Intron	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN	Homo sapiens RNA binding protein, fox-1 homolog (C. elegans) 1 (RBFOX1), transcript variant 4, mRNA.	303					RNA splicing|RNA transport|mRNA processing	nucleus|trans-Golgi network	RNA binding|nucleotide binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						TACCAGGATGGATTTTATGGT	0.443000														136			66		0	0	1	0	0
PI4KA	5297	broad.mit.edu	37	22	21106004	21106004	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr22:21106004G>A	uc002zsz.4	-	25	3114	c.2853C>T	c.(2851-2853)acC>acT	p.T951T		NM_058004	NP_477352	P42356	PI4KA_HUMAN	Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha (PI4KA), transcript variant 1, mRNA.	951					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			TGTCCAGCATGGTCTTCAGCA	0.602000														75			18		0	0	1	0	0
KLK6	5653	broad.mit.edu	37	19	51470516	51470516	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:51470516G>A	uc002puh.3	-	1	198	c.133C>T	c.(133-135)Caa>Taa	p.Q45*	KLK6_uc010eoj.3_Nonsense_Mutation_p.Q36*|KLK6_uc002pui.3_Nonsense_Mutation_p.Q36*|KLK6_uc002puj.3_5'UTR|KLK6_uc010ycn.2_Intron|KLK6_uc002pul.3_Nonsense_Mutation_p.Q36*|KLK6_uc002pum.3_Intron	NM_001012965	NP_001012983	Q92876	KLK6_HUMAN	Homo sapiens kallikrein-related peptidase 6 (KLK6), transcript variant C, mRNA.	36	Peptidase S1.				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		AGGGCAGCTTGGTAGGGGTGA	0.567000														32			19		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179466502	179466502	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:179466502C>T	uc021vsy.1	-	234	47836	c.47611G>A	c.(47611-47613)Gaa>Aaa	p.E15871K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E9566K|TTN_uc021vta.1_Missense_Mutation_p.E9499K|TTN_uc021vtb.1_Missense_Mutation_p.E9374K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	16798	Fibronectin type-III 15.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAGGAGTTTTCAGCAGTCTCC	0.328000														49			22		0	0	1	0	0
ACOX2	8309	broad.mit.edu	37	3	58519830	58519830	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:58519830G>A	uc003dkl.3	-	3	541	c.366C>T	c.(364-366)ttC>ttT	p.F122F		NM_003500	NP_003491	Q99424	ACOX2_HUMAN	Homo sapiens acyl-CoA oxidase 2, branched chain (ACOX2), mRNA.	122					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		GGGCTCTCACGAAGACTCTGT	0.527000														48			15		0	0	1	0	0
ARHGAP11A	9824	broad.mit.edu	37	15	32928676	32928676	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:32928676C>T	uc001zgy.1	+	11	2424	c.1702C>T	c.(1702-1704)Cct>Tct	p.P568S	ARHGAP11A_uc010ubw.1_Missense_Mutation_p.P379S|ARHGAP11A_uc010ubx.1_Missense_Mutation_p.P379S	NM_014783	NP_055598	Q6P4F7	RHGBA_HUMAN	Homo sapiens Rho GTPase activating protein 11A (ARHGAP11A), transcript variant 1, mRNA.	568					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		TGAACTCACCCCTTCCAATTT	0.373000														31			23		0	0	1	0	0
CDHR5	53841	broad.mit.edu	37	11	618054	618055	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:618054_618055CC>TT	uc001lql.3	-	13	2284_2285	c.2017_2018GG>AA	c.(2017-2019)ggg>AAg	p.G673K	IRF7_uc009ycb.3_5'Flank|IRF7_uc010qwf.2_5'Flank|IRF7_uc001lqf.3_5'Flank|IRF7_uc010qwg.2_5'Flank|IRF7_uc001lqg.3_5'Flank|IRF7_uc001lqh.3_5'Flank|IRF7_uc001lqi.3_5'Flank|IRF7_uc010qwh.2_5'Flank|CDHR5_uc001lqj.3_Missense_Mutation_p.G673K|CDHR5_uc009ycd.3_Missense_Mutation_p.G667K|CDHR5_uc001lqk.3_Missense_Mutation_p.G479K|CDHR5_uc009ycc.3_Missense_Mutation_p.G507K	NM_021924	NP_068743	Q9HBB8	CDHR5_HUMAN	Homo sapiens cadherin-related family member 5 (CDHR5), transcript variant 1, mRNA.	673					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						ACCCAGCACCCCGCCCAGGGCC	0.653000														21			4		0	0	1	0	0
CLCN5	1184	broad.mit.edu	37	X	49855477	49855477	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:49855477C>T	uc004dos.1	+	10	2332	c.2084C>T	c.(2083-2085)cCc>cTc	p.P695L	CLCN5_uc004dor.1_Missense_Mutation_p.P765L|CLCN5_uc004doq.1_Missense_Mutation_p.P765L|CLCN5_uc004dot.1_Missense_Mutation_p.P695L	NM_000084	NP_000075	P51795	CLCN5_HUMAN	Homo sapiens chloride channel 5 (CLCN5), transcript variant 3, mRNA.	695	CBS 2.				excretion	Golgi membrane|apical part of cell|endosome membrane|integral to plasma membrane	ATP binding|antiporter activity			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					GACCTTACACCCATGGAGATC	0.493000														12			33		0	0	1	0	0
ZNF792	126375	broad.mit.edu	37	19	35449554	35449554	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:35449554G>A	uc002nxh.1	-	3	1592	c.1205C>T	c.(1204-1206)tCt>tTt	p.S402F		NM_175872	NP_787068	Q3KQV3	ZN792_HUMAN	Homo sapiens zinc finger protein 792 (ZNF792), mRNA.	402					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GCAGTTGAAAGATTTCCCACA	0.463000														26			8		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196759807	196759807	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:196759807C>T	uc002utj.4	-	29	4890	c.4789G>A	c.(4789-4791)Gaa>Aaa	p.E1597K		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1597	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATCATCATTTCATATACTTGA	0.373000														33			18		0	0	1	0	0
SLC5A7	60482	broad.mit.edu	37	2	108627088	108627088	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:108627088G>A	uc002tdv.3	+	8	1790	c.1514G>A	c.(1513-1515)gGa>gAa	p.G505E	SLC5A7_uc010ywm.2_Missense_Mutation_p.G258E|SLC5A7_uc010fjj.3_Missense_Mutation_p.G505E|SLC5A7_uc010ywn.2_Missense_Mutation_p.G392E	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA.	505					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TTTGAAAGTGGAACCTTGCCA	0.313000														43			18		0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34149994	34149994	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:34149994G>A	uc004ddg.3	-	0	454	c.402C>T	c.(400-402)taC>taT	p.Y134Y		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	134										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						CCAGATTGGGGTACATGGCCA	0.557000														12			23		0	0	1	0	0
SCN1B	6324	broad.mit.edu	37	19	35524582	35524582	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:35524582C>T	uc002nxo.2	+	2	520	c.387C>T	c.(385-387)ttC>ttT	p.F129F	SCN1B_uc002nxp.3_Silent_p.F129F|SCN1B_uc010xsg.2_Intron	NM_199037	NP_950238	Q07699	SCN1B_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, beta (SCN1B), transcript variant b, mRNA.	129	Ig-like C2-type.				axon guidance|synaptic transmission	integral to membrane	voltage-gated sodium channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	11	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			TGCTCTTCTTCGAAAACTACG	0.552000														52			40		0	0	1	0	0
SLAMF7	57823	broad.mit.edu	37	1	160720152	160720153	+	Silent	DNP	CC	TT	TT	rs144271994		TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:160720152_160720153CC>TT	uc001fwq.3	+	3	723_724	c.708_709CC>TT	c.(706-711)ctcctg>ctTTtg	p.236_237LL>LL	SLAMF7_uc010pjn.2_Silent_p.142_143LL>LL|SLAMF7_uc001fws.3_Silent_p.129_130LL>LL|SLAMF7_uc001fwr.3_Silent_p.236_237LL>LL|SLAMF7_uc010pjo.2_Intron|SLAMF7_uc010pjp.2_Intron|SLAMF7_uc010pjq.2_Intron|SLAMF7_uc010pjr.2_Intron	NM_021181	NP_067004	Q9NQ25	SLAF7_HUMAN	Homo sapiens SLAM family member 7 (SLAMF7), mRNA.	236					cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity	integral to membrane	receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4)	24	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TGGTGCCCCTCCTGCTCAGTCT	0.500000														124			57		0	0	1	0	0
ENPP1	5167	broad.mit.edu	37	6	132207750	132207750	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:132207750C>T	uc011ecf.2	+	23	2513	c.2493C>T	c.(2491-2493)ttC>ttT	p.F831F		NM_006208	NP_006199	P22413	ENPP1_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1), mRNA.	831	Nuclease.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	CAACTCACTTCTTTATTGTGC	0.348000														10			13		0	0	1	0	0
ZNF561	93134	broad.mit.edu	37	19	9721101	9721101	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:9721101C>T	uc002mlu.3	-	5	1441	c.1236G>A	c.(1234-1236)ttG>ttA	p.L412L	ZNF561_uc010dwu.3_Silent_p.L343L|ZNF561_uc010xkr.2_Silent_p.L276L	NM_152289	NP_689502	Q8N587	ZN561_HUMAN	Homo sapiens zinc finger protein 561 (ZNF561), mRNA.	412					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L343F(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	14						TATGAGTTTTCAAATGTTTAC	0.408000														72			35		0	0	1	0	0
NDNF	79625	broad.mit.edu	37	4	121958359	121958359	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:121958359C>T	uc003idq.1	-	3	1294	c.767G>A	c.(766-768)gGa>gAa	p.G256E		NM_024574	NP_078850	Q8TB73	CD031_HUMAN	Homo sapiens neuron-derived neurotrophic factor (NDNF), mRNA.	256										breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						AGAAGGAAATCCAAAGTGGGC	0.478000														27			13		0	0	1	0	0
OR5D18	219438	broad.mit.edu	37	11	55587315	55587315	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:55587315G>A	uc010rin.2	+	0	210	c.210G>A	c.(208-210)gtG>gtA	p.V70V		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 18 (OR5D18), mRNA.	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TCTCCTTTGTGGATTTCTGCT	0.408000														171			71		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106692121	106692121	+	RNA	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:106692121C>T	uc021ser.1	-	1154		c.24965G>A								Parts of antibodies, mostly variable regions.																		AGCCCCAGTTCCATGGTGAAT	0.502000														100			40		0	0	1	0	0
CCDC109B	55013	broad.mit.edu	37	4	110606415	110606415	+	Silent	SNP	T	C	C			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:110606415T>C	uc011cfs.2	+	6	964	c.825T>C	c.(823-825)acT>acC	p.T275T		NM_017918	NP_060388	Q9NWR8	C109B_HUMAN	Homo sapiens coiled-coil domain containing 109B (CCDC109B), mRNA.	275						integral to membrane				breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(1)	9				OV - Ovarian serous cystadenocarcinoma(123;6.65e-06)		AGGATTATACTTACTCAGCTG	0.358000														28			18		0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183713475	183713475	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:183713475G>A	uc003ivd.1	+	24	5725	c.5650G>A	c.(5650-5652)Gat>Aat	p.D1884N		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	1884					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		CTTCGAATACGATATGTGGGA	0.502000														51			29		0	0	1	0	0
RBMXL2	27288	broad.mit.edu	37	11	7111030	7111030	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:7111030G>A	uc001mfc.2	+	0	866	c.679G>A	c.(679-681)Gaa>Aaa	p.E227K		NM_014469	NP_055284	O75526	HNRGT_HUMAN	Homo sapiens RNA binding motif protein, X-linked-like 2 (RBMXL2), mRNA.	227	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	RNA binding|nucleotide binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGACTACCGCGAACCCCGGGG	0.706000														9			4		0	0	1	0	0
SH3RF2	153769	broad.mit.edu	37	5	145439567	145439567	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:145439567C>T	uc003lnt.3	+	8	1932	c.1694C>T	c.(1693-1695)gCc>gTc	p.A565V	SH3RF2_uc011dbl.1_Missense_Mutation_p.A565V|SH3RF2_uc011dbm.1_Missense_Mutation_p.A50V|SH3RF2_uc003lnu.3_Missense_Mutation_p.A56V|SH3RF2_uc011dbn.1_Missense_Mutation_p.A56V|SH3RF2_uc011dbo.2_Missense_Mutation_p.A22V	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.	565							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCCCCTCAGCCGTGGTGGTG	0.672000														37			20		0	0	1	0	0
CWH43	80157	broad.mit.edu	37	4	49032865	49032865	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:49032865G>A	uc003gyv.3	+	10	1578	c.1396G>A	c.(1396-1398)Gag>Aag	p.E466K	CWH43_uc011bzl.2_Missense_Mutation_p.E439K	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN	Homo sapiens cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) (CWH43), mRNA.	466					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						AACAATTTTGGAGAGTGATGC	0.388000														40			25		0	0	1	0	0
PLCL2	23228	broad.mit.edu	37	3	17051542	17051542	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:17051542C>T	uc011awc.2	+	2	776	c.680C>T	c.(679-681)tCc>tTc	p.S227F	PLCL2_uc010het.1_Missense_Mutation_p.S109F|PLCL2_uc011awd.2_Missense_Mutation_p.S109F	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN	Homo sapiens phospholipase C-like 2 (PLCL2), transcript variant 1, mRNA.	235	PH.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						GTTGCCAACTCCGCAGATGTT	0.408000														69			42		0	0	1	0	0
PION	54103	broad.mit.edu	37	7	76955544	76955544	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:76955544C>T	uc003ugf.3	-	22	1891	c.1812G>A	c.(1810-1812)cgG>cgA	p.R604R	PION_uc011kgo.2_5'UTR|PION_uc003ugd.3_5'UTR	NM_017439	NP_059135	A4D1B5	GSAP_HUMAN	Homo sapiens pigeon homolog (Drosophila) (PION), mRNA.	604					beta-amyloid formation|regulation of proteolysis	trans-Golgi network	beta-amyloid binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CCATGAGCAGCCGCTGGTGGC	0.517000														54			31		0	0	1	0	0
PLA2R1	22925	broad.mit.edu	37	2	160813066	160813066	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:160813066C>T	uc002ube.2	-	20	3189	c.2977G>A	c.(2977-2979)Gaa>Aaa	p.E993K	PLA2R1_uc010zcp.2_Missense_Mutation_p.E993K|PLA2R1_uc002ubf.3_Missense_Mutation_p.E993K	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA.	993	C-type lectin 6.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						CCCCCTTCTTCAGCACAGAAA	0.433000														52			32		0	0	1	0	0
GARNL3	84253	broad.mit.edu	37	9	130117739	130117739	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:130117739C>T	uc011mae.2	+	19	2324	c.1923C>T	c.(1921-1923)ttC>ttT	p.F641F	GARNL3_uc011mad.2_Silent_p.F619F|GARNL3_uc010mxi.3_5'UTR	NM_032293	NP_115669	Q5VVW2	GARL3_HUMAN	Homo sapiens GTPase activating Rap/RanGAP domain-like 3 (GARNL3), mRNA.	641	CNH.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						TTGAAGAATTCCAGTACATCA	0.453000														228			114		0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	98187204	98187204	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:98187204C>T	uc001drv.3	-	4	482	c.345G>A	c.(343-345)atG>atA	p.M115I	DPYD_uc010oub.1_Non-coding_Transcript|DPYD_uc001drw.3_Missense_Mutation_p.M115I	NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	115					'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	CAGAAAATATCATCTTAGCAG	0.333000														50			21		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38935245	38935245	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:38935245G>A	uc002oit.3	+	6	689	c.559G>A	c.(559-561)Gag>Aag	p.E187K	RYR1_uc002oiu.3_Missense_Mutation_p.E187K	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	187	MIR 2.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.E187K(2)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CGCCAGTGGGGAGCTCCAGGT	0.617000														15			11		0	0	1	0	0
OR4D5	219875	broad.mit.edu	37	11	123810601	123810601	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:123810601C>T	uc001pzk.1	+	0	278	c.278C>T	c.(277-279)tCc>tTc	p.S93F		NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 5 (OR4D5), mRNA.	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I92I(1)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CCTACCATTTCCTTTGGTGGA	0.468000														40			18		0	0	1	0	0
FOLH1	2346	broad.mit.edu	37	11	49197469	49197469	+	Missense_Mutation	SNP	C	T	T	rs143707827		TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:49197469C>T	uc001ngy.3	-	7	1222	c.961G>A	c.(961-963)Gga>Aga	p.G321R	FOLH1_uc009yly.3_Missense_Mutation_p.G306R|FOLH1_uc009ylz.3_Missense_Mutation_p.G306R|FOLH1_uc001ngz.3_Missense_Mutation_p.G321R|FOLH1_uc009yma.3_Missense_Mutation_p.G13R	NM_004476	NP_001180402	Q04609	FOLH1_HUMAN	Homo sapiens folate hydrolase (prostate-specific membrane antigen) 1 (FOLH1), transcript variant 1, mRNA.	321	NAALADase.				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	p.G321R(2)|p.R320K(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	TTGAGACTTCCTCTCCAGCTG	0.383000														45			24		0	0	1	0	0
ARL9	132946	broad.mit.edu	37	4	57384864	57384864	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:57384864C>T	uc003hby.1	+	2	485	c.37C>T	c.(37-39)Cgg>Tgg	p.R13W		NM_206919	NP_996802	Q6T311	ARL9_HUMAN	Homo sapiens ADP-ribosylation factor-like 9 (ARL9), mRNA.	77							GTP binding			lung(2)	2	Glioma(25;0.08)|all_neural(26;0.101)					TAAACCTTTTCGGTCCTACTG	0.483000														66			33		0	0	1	0	0
LAMC3	10319	broad.mit.edu	37	9	133917055	133917055	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:133917055G>A	uc004caa.1	+	6	1413	c.1315G>A	c.(1315-1317)Gac>Aac	p.D439N		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	Homo sapiens laminin, gamma 3 (LAMC3), mRNA.	439	Laminin EGF-like 4.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		TGGCAGCCTGGACACCTGTGA	0.542000														29			12		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140176063	140176063	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:140176063C>T	uc003lhd.2	+	0	1620	c.1514C>T	c.(1513-1515)tCg>tTg	p.S505L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Missense_Mutation_p.S505L|PCDHAC2_uc011czy.2_Missense_Mutation_p.S505L	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	519	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGCGTTGTCGAGCTACGTT	0.677000														64			28		0	0	1	0	0
FAM86A	196483	broad.mit.edu	37	16	5139180	5139180	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:5139180G>A	uc002cyo.2	-	6	869	c.820C>T	c.(820-822)Cgg>Tgg	p.R274W	FAM86A_uc002cyp.2_Missense_Mutation_p.R240W	NM_201400	NP_958802	Q96G04	FA86A_HUMAN	Homo sapiens family with sequence similarity 86, member A (FAM86A), transcript variant 1, mRNA.	274										endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						TCAGGAGCCCGCTGGTGCTCC	0.637000														80			4		0	0	1	0	0
EDF1	8721	broad.mit.edu	37	9	139756759	139756759	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:139756759C>T	uc004cjt.1	-	4	452	c.424G>A	c.(424-426)Gag>Aag	p.E142K		NM_003792	NP_003783	O60869	EDF1_HUMAN	Homo sapiens endothelial differentiation-related factor 1 (EDF1), transcript variant alpha, mRNA.	142					endothelial cell differentiation|multicellular organismal development|positive regulation of DNA binding|positive regulation of transcription, DNA-dependent|regulation of lipid metabolic process|transcription, DNA-dependent	cytoplasm|nucleolus|nucleus	calmodulin binding|protein binding|sequence-specific DNA binding|transcription coactivator activity			lung(1)	1	all_cancers(76;0.0841)|all_epithelial(76;0.217)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		GGCCCCTTCTCGATGGGCTTT	0.612000														107			57		0	0	1	0	0
CDH2	1000	broad.mit.edu	37	18	25589743	25589743	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr18:25589743G>A	uc002kwg.2	-	4	1099	c.640C>T	c.(640-642)Ccc>Tcc	p.P214S	CDH2_uc010xbn.1_Missense_Mutation_p.P183S	NM_001792	NP_001783	P19022	CADH2_HUMAN	Homo sapiens cadherin 2, type 1, N-cadherin (neuronal) (CDH2), mRNA.	214	Cadherin 1.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CCCGAGATGGGGTTGATAATG	0.488000														85			28		0	0	1	0	0
TRIM39-RPP21	202658	broad.mit.edu	37	6	30314530	30314530	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:30314530C>T	uc003nqf.2	+	4	458	c.415C>T	c.(415-417)Cat>Tat	p.H139Y	TRIM39-RPP21_uc010jsa.2_Silent_p.S485S|TRIM39-RPP21_uc021yuc.1_Silent_p.S144S|TRIM39-RPP21_uc003nqe.2_Silent_p.S136S|TRIM39-RPP21_uc003nqd.2_Silent_p.S159S	NM_001199121	NP_001186050	A6ZJ12	A6ZJ12_HUMAN	Homo sapiens ribonuclease P/MRP 21kDa subunit (RPP21), transcript variant 3, mRNA.	0						intracellular	zinc ion binding										CAGCCCACTCCATTTCAGACC	0.433000														140			164		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152284394	152284394	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:152284394C>T	uc001ezu.1	-	2	3004	c.2968G>A	c.(2968-2970)Gaa>Aaa	p.E990K	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	990	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTCTGTCTTCGTGATGGGAC	0.572000									Ichthyosis					187			107		0	0	1	0	0
ZNF812	729648	broad.mit.edu	37	19	9801409	9801409	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:9801409G>A	uc021uop.1	-	5	1416	c.770C>T	c.(769-771)tCc>tTc	p.S257F	ZNF812_uc010xkx.2_Missense_Mutation_p.S153F	NM_001199814	NP_001186743	P0C7V5	ZN812_HUMAN	Homo sapiens zinc finger protein 812 (ZNF812), mRNA.	257					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						ATTTCTAAAGGATCTTCCACA	0.348000														28			10		0	0	1	0	0
CRH	1392	broad.mit.edu	37	8	67089128	67089128	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:67089128C>T	uc022avj.1	-	0	585	c.585G>A	c.(583-585)ggG>ggA	p.G195G	CRH_uc003xvy.2_Silent_p.G195G	NM_000756	NP_000747	P06850	CRF_HUMAN	Homo sapiens corticotropin releasing hormone (CRH), mRNA.	195					female pregnancy|negative regulation of circadian sleep/wake cycle, REM sleep|parturition|positive regulation of circadian sleep/wake cycle, wakefulness|positive regulation of cortisol secretion|signal transduction|synaptic transmission	extracellular region|soluble fraction	neuropeptide hormone activity			breast(1)|endometrium(1)|lung(2)|urinary_tract(1)	5		all_cancers(86;2.58e-06)|all_epithelial(80;6.27e-09)|all_lung(136;0.000414)|Lung NSC(129;0.0011)	Epithelial(68;0.0136)|all cancers(69;0.0507)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)		Corticotropin(DB01285)	CGTTTTATTTCCCAATAATCT	0.433000											OREG0018805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		13			46		0	0	1	0	0
CDH20	28316	broad.mit.edu	37	18	59166667	59166667	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr18:59166667C>T	uc010dps.1	+	1	647	c.495C>T	c.(493-495)ttC>ttT	p.F165F	CDH20_uc002lif.2_Silent_p.F159F	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	Homo sapiens cadherin 20, type 2 (CDH20), mRNA.	165	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				AGCCCAAGTTCCTGGACGGAC	0.498000														47			28		0	0	1	0	0
NBPF14	25832	broad.mit.edu	37	1	148009443	148009443	+	Missense_Mutation	SNP	G	C	C			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:148009443G>C	uc001eqq.3	-	15	1896	c.1864C>G	c.(1864-1866)Cct>Gct	p.P622A	NBPF14_uc001eqe.3_Intron|NBPF14_uc001eqf.3_Intron|NBPF14_uc001eqg.3_Intron|FLJ39739_uc001eqo.1_Intron|NBPF14_uc021ovz.1_Intron|NBPF14_uc021owa.1_Missense_Mutation_p.P603A|NBPF14_uc021owb.1_Intron|NBPF14_uc021owc.1_Intron|NBPF14_uc010pad.1_Intron	NM_015383	NP_056198	Q5TI25	NBPFE_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 14 (NBPF14), mRNA.	622	NBPF 7.					cytoplasm		p.P622H(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					CAACCTGAAGGAGTTGAATAG	0.478000														497			41		0	0	1	0	0
GLIS3	169792	broad.mit.edu	37	9	3829438	3829438	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:3829438C>T	uc003zhx.1	-	9	3241	c.2528G>A	c.(2527-2529)aGa>aAa	p.R843K	GLIS3_uc010mhf.1_Missense_Mutation_p.R237K|GLIS3_uc003zhv.1_Non-coding_Transcript|GLIS3_uc003zhw.1_Missense_Mutation_p.R688K	NM_001042413	NP_001035878	Q8NEA6	GLIS3_HUMAN	Homo sapiens GLIS family zinc finger 3 (GLIS3), transcript variant 1, mRNA.	688					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		CGGCACAATTCTCTGGGAATC	0.532000														38			16		0	0	1	0	0
WNK1	65125	broad.mit.edu	37	12	1005700	1005700	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:1005700C>T	uc021qss.1	+	23	7470	c.6827C>T	c.(6826-6828)gCc>gTc	p.A2276V	WNK1_uc001qio.4_Missense_Mutation_p.A2016V|WNK1_uc021qst.1_Missense_Mutation_p.A2268V|WNK1_uc001qip.4_Missense_Mutation_p.A1768V|WNK1_uc001qir.4_Missense_Mutation_p.A1189V	NM_001184985	NP_001171914	Q9H4A3	WNK1_HUMAN	Homo sapiens WNK lysine deficient protein kinase 1 (WNK1), transcript variant 4, mRNA.	2016					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GACCCGGAGGCCGCTTTTTTA	0.498000														29			13		0	0	1	0	0
APOL5	80831	broad.mit.edu	37	22	36123192	36123192	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr22:36123192C>T	uc003aof.3	+	2	1077	c.1077C>T	c.(1075-1077)tcC>tcT	p.S359S		NM_030642	NP_085145	Q9BWW9	APOL5_HUMAN	Homo sapiens apolipoprotein L, 5 (APOL5), mRNA.	359					lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						AGACCTGTTCCAGCTCCCGGG	0.587000														42			42		0	0	1	0	0
SLC5A7	60482	broad.mit.edu	37	2	108626719	108626719	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:108626719G>A	uc002tdv.3	+	8	1421	c.1145G>A	c.(1144-1146)cGa>cAa	p.R382Q	SLC5A7_uc010ywm.2_Missense_Mutation_p.R135Q|SLC5A7_uc010fjj.3_Missense_Mutation_p.R382Q|SLC5A7_uc010ywn.2_Missense_Mutation_p.R269Q	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA.	382					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TGGGTTATGCGAATCACAGTG	0.453000														37			15		0	0	1	0	0
ATCAY	85300	broad.mit.edu	37	19	3909578	3909578	+	Missense_Mutation	SNP	G	C	C			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:3909578G>C	uc010xhz.2	+	7	1243	c.760G>C	c.(760-762)Ggc>Cgc	p.G254R	ATCAY_uc002lyy.4_Missense_Mutation_p.G248R|ATCAY_uc010dts.3_Missense_Mutation_p.G5R			Q86WG3	ATCAY_HUMAN	Homo sapiens ataxia, cerebellar, Cayman type (ATCAY), mRNA.	248	CRAL-TRIO.				transport		protein binding	p.G248C(1)		breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		GCCTGGAATCGGCTGGCTGAA	0.592000														9			6		0	0	1	0	0
KCTD19	146212	broad.mit.edu	37	16	67328566	67328566	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:67328566C>T	uc002esu.2	-	10	1558	c.1507G>A	c.(1507-1509)Gaa>Aaa	p.E503K	KCTD19_uc002est.2_Missense_Mutation_p.E275K|KCTD19_uc010vjj.1_Missense_Mutation_p.E246K	NM_001100915	NP_001094385	Q17RG1	KCD19_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 19 (KCTD19), mRNA.	503						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		AAAGCTTCTTCATTTTCAGAT	0.493000														60			23		0	0	1	0	0
NIPAL1	152519	broad.mit.edu	37	4	48027120	48027120	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:48027120C>T	uc003gxw.3	+	1	148	c.82C>T	c.(82-84)Cag>Tag	p.Q28*		NM_207330	NP_997213	Q6NVV3	NIPA3_HUMAN	Homo sapiens NIPA-like domain containing 1 (NIPAL1), mRNA.	28						integral to membrane				endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						AAACTCCTCCCAGGCTTGGTG	0.453000														61			41		0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247588393	247588393	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:247588393C>T	uc001icr.3	+	4	1786	c.1648C>T	c.(1648-1650)Cgt>Tgt	p.R550C	NLRP3_uc001ics.3_Missense_Mutation_p.R550C|NLRP3_uc001icu.3_Missense_Mutation_p.R550C|NLRP3_uc001icw.3_Missense_Mutation_p.R550C|NLRP3_uc001icv.3_Missense_Mutation_p.R550C|NLRP3_uc010pyw.2_Missense_Mutation_p.R548C|NLRP3_uc001ict.1_Missense_Mutation_p.R548C	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	550					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TCCAGGGAGTCGTTTGAAGCT	0.473000														12			10		0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	177001897	177001897	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:177001897G>A	uc001glc.3	-	2	772	c.560C>T	c.(559-561)cCg>cTg	p.P187L	ASTN1_uc001glb.1_Missense_Mutation_p.P187L|ASTN1_uc001gld.1_Missense_Mutation_p.P187L|ASTN1_uc009wwx.1_Missense_Mutation_p.P187L|ASTN1_uc001gle.4_Non-coding_Transcript	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	187					cell migration|neuron cell-cell adhesion	integral to membrane		p.V186V(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CTGGGGCTGCGGGACCCGGCG	0.612000														31			20		0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136597406	136597406	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:136597406C>T	uc003qgx.1	-	4	1510	c.1257G>A	c.(1255-1257)caG>caA	p.Q419Q	BCLAF1_uc003qgy.1_Silent_p.Q417Q|BCLAF1_uc011edc.1_Intron|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Silent_p.Q417Q|BCLAF1_uc003qgw.1_Intron	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	419					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		AACTTTTACCCTGATCTGCGA	0.418000														180			43		0	0	1	0	0
LRIT1	26103	broad.mit.edu	37	10	85997394	85997394	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:85997394G>A	uc001kcz.1	-	1	193	c.171C>T	c.(169-171)atC>atT	p.I57I		NM_015613	NP_056428	Q9P2V4	LRIT1_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 1 (LRIT1), mRNA.	57	LRRNT.					integral to endoplasmic reticulum membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						TGTCCGGGGGGATGGACGCCG	0.667000														39			31		0	0	1	0	0
OVGP1	5016	broad.mit.edu	37	1	111957464	111957464	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:111957464C>T	uc001eba.3	-	10	1715	c.1659G>A	c.(1657-1659)caG>caA	p.Q553Q	OVGP1_uc001eaz.3_Silent_p.Q515Q|OVGP1_uc010owb.2_Silent_p.Q201Q	NM_002557	NP_002548	Q12889	OVGP1_HUMAN	Homo sapiens oviductal glycoprotein 1, 120kDa (OVGP1), mRNA.	553					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		GGGTCTCAGTCTGAAAATGGA	0.542000														76			38		0	0	1	0	0
NMUR2	56923	broad.mit.edu	37	5	151784092	151784092	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:151784092C>T	uc003luv.2	-	0	749	c.583G>A	c.(583-585)Ggg>Agg	p.G195R		NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	Homo sapiens neuromedin U receptor 2 (NMUR2), mRNA.	195					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			ACCAGGGACCCATTGGGGAAG	0.577000														162			5		0	0	1	0	0
RGPD4	285190	broad.mit.edu	37	2	108499134	108499134	+	Missense_Mutation	SNP	A	G	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:108499134A>G	uc010ywk.2	+	21	5153	c.5071A>G	c.(5071-5073)Aaa>Gaa	p.K1691E	RGPD4_uc002tdu.3_Missense_Mutation_p.K878E|RGPD4_uc010ywl.2_Non-coding_Transcript	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	1691					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						CCAGCTTCTCAAAAGTGAAAT	0.393000														30			19		0	0	1	0	0
USP43	124739	broad.mit.edu	37	17	9631397	9631397	+	Missense_Mutation	SNP	C	T	T	rs76912039		TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:9631397C>T	uc010cod.3	+	14	2462	c.2462C>T	c.(2461-2463)tCc>tTc	p.S821F	USP43_uc002gma.4_Missense_Mutation_p.S510F|USP43_uc010vva.2_Missense_Mutation_p.S816F|USP43_uc010coe.3_Missense_Mutation_p.S618F|USP43_uc002gmc.4_Missense_Mutation_p.S333F	NM_153210	NP_694942	Q70EL4	UBP43_HUMAN	Homo sapiens ubiquitin specific peptidase 43 (USP43), mRNA.	821					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						TCCTTTGGATCCAAGGAGAAA	0.577000														12			7		0	0	1	0	0
RASSF5	83593	broad.mit.edu	37	1	206711542	206711542	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:206711542C>T	uc001hed.3	+	1	556	c.499C>T	c.(499-501)Cag>Tag	p.Q167*	RASSF5_uc001hec.1_Nonsense_Mutation_p.Q167*|RASSF5_uc001hee.3_Nonsense_Mutation_p.Q167*	NM_182663	NP_872604	Q8WWW0	RASF5_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 5 (RASSF5), transcript variant 1, mRNA.	167					apoptosis|intracellular signal transduction	cytoplasm|microtubule	metal ion binding|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	8	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			CAGCCTGATCCAGTTGGACTG	0.542000														99			52		0	0	1	0	0
PLA2G7	7941	broad.mit.edu	37	6	46682265	46682265	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:46682265C>T	uc010jzf.3	-	4	671	c.402G>A	c.(400-402)tgG>tgA	p.W134*	PLA2G7_uc021zae.1_Nonsense_Mutation_p.W134*|PLA2G7_uc011dwd.1_Nonsense_Mutation_p.W89*|PLA2G7_uc011dwe.1_Nonsense_Mutation_p.W7*	NM_005084	NP_005075	Q13093	PAFA_HUMAN	Homo sapiens phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma) (PLA2G7), transcript variant 1, mRNA.	134					inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			GAGGGGAATTCCAGTTTGCAG	0.388000														139			33		0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40757307	40757307	+	Missense_Mutation	SNP	A	G	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:40757307A>G	uc001rmg.4	+	47	7253	c.7132A>G	c.(7132-7134)Aag>Gag	p.K2378E	LRRK2_uc009zjw.3_Missense_Mutation_p.K1216E|LRRK2_uc001rmi.3_Missense_Mutation_p.K1211E	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA.	2378					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AGTGTGGGATAAGAAAACTGA	0.363000														29			16		0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56370100	56370100	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:56370100C>T	uc002qmd.4	+	2	1763	c.1341C>T	c.(1339-1341)tcC>tcT	p.S447S	NLRP4_uc002qmf.3_Silent_p.S372S|NLRP4_uc010etf.3_Silent_p.S278S	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	447	NACHT.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GTGAGAGCTCCTACGTGTTCC	0.537000														66			39		0	0	1	0	0
ITGB2	3689	broad.mit.edu	37	21	46309222	46309222	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr21:46309222G>A	uc002zgd.2	-	11	1890	c.1846C>T	c.(1846-1848)Ccc>Tcc	p.P616S	ITGB2_uc002zgf.3_Missense_Mutation_p.P616S|ITGB2_uc011afl.1_Missense_Mutation_p.P538S|ITGB2_uc010gpw.2_Missense_Mutation_p.P559S|ITGB2_uc002zgg.2_Missense_Mutation_p.P616S	NM_001127491	NP_001120963	P05107	ITB2_HUMAN	Homo sapiens integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) (ITGB2), transcript variant 2, mRNA.	616	Cysteine-rich tandem repeats.				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	GGGCAGCCGGGGCACTCCTGG	0.682000														16			17		0	0	1	0	0
IGH	0	broad.mit.edu	37	16	32070575	32070575	+	RNA	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:32070575G>A	uc002ecv.1	+	0		c.28G>A								Homo sapiens IGH mRNA for immunoglobulin heavy chain VHDJ region, partial cds, clone:H233.																		CTGGGGCTGAGGTGAAGAAGC	0.587000														42			13		0	0	1	0	0
FPR3	2359	broad.mit.edu	37	19	52327032	52327032	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:52327032G>A	uc002pxt.1	+	1	215	c.31G>A	c.(31-33)Gaa>Aaa	p.E11K	FPR3_uc021uyq.1_Missense_Mutation_p.E11K	NM_002030	NP_002021	P25089	FPR3_HUMAN	Homo sapiens formyl peptide receptor 3 (FPR3), mRNA.	11					cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						TCCTCTGAATGAAACTGAGGA	0.493000														15			16		0	0	1	0	0
KRTAP5-4	387267	broad.mit.edu	37	11	1642978	1642979	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:1642978_1642979CC>TT	uc009ycy.1	-	1	327_328	c.240_241GG>AA	c.(238-243)gggggt>ggAAgt	p.G81S	MOB2_uc001ltq.2_Intron	NM_001012709	NP_001012727	Q6L8H1	KRA54_HUMAN	Homo sapiens keratin associated protein 5-4 (KRTAP5-4), mRNA.	176	9 X 4 AA repeats of C-C-X-P.					keratin filament				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCCTTGGAACCCCCACAGGAGC	0.663000														68			26		0	0	1	0	0
WFDC8	90199	broad.mit.edu	37	20	44180676	44180676	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr20:44180676G>A	uc002xow.3	-	5	794	c.715C>T	c.(715-717)Ccc>Tcc	p.P239S	WFDC8_uc002xox.3_Missense_Mutation_p.P239S	NM_181510	NP_852611	Q8IUA0	WFDC8_HUMAN	Homo sapiens WAP four-disulfide core domain 8 (WFDC8), transcript variant b, mRNA.	239	WAP 3.					extracellular region	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15		Myeloproliferative disorder(115;0.0122)				CAACGTCTGGGGTCCATACAT	0.398000														86			35		0	0	1	0	0
TGM4	7047	broad.mit.edu	37	3	44951641	44951641	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:44951641G>A	uc003coc.4	+	10	1460	c.1387G>A	c.(1387-1389)Gag>Aag	p.E463K		NM_003241	NP_003232	P49221	TGM4_HUMAN	Homo sapiens transglutaminase 4 (prostate) (TGM4), mRNA.	463					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	TTCTGAGAGGGAGCACAGACG	0.478000														29			13		0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31299667	31299667	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:31299667G>A	uc003jhe.2	+	4	1100	c.740G>A	c.(739-741)gGa>gAa	p.G247E	CDH6_uc003jhd.2_Missense_Mutation_p.G247E	NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	247	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CAGATGGGAGGATTATCTGGG	0.478000														68			34		0	0	1	0	0
PHLDB1	23187	broad.mit.edu	37	11	118498710	118498710	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:118498710C>T	uc001ptr.2	+	6	1524	c.1171C>T	c.(1171-1173)Ccc>Tcc	p.P391S	PHLDB1_uc001pts.3_Missense_Mutation_p.P391S|PHLDB1_uc001ptt.3_Missense_Mutation_p.P391S|PHLDB1_uc001ptu.2_Intron|PHLDB1_uc001ptv.2_Missense_Mutation_p.P191S|PHLDB1_uc001ptw.2_5'Flank	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 1 (PHLDB1), transcript variant 1, mRNA.	391										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		AGTCCCTGCTCCCCGAAACAA	0.607000														116			53		0	0	1	0	0
CCDC67	159989	broad.mit.edu	37	11	93127783	93127783	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:93127783G>A	uc001pdq.3	+	9	1300	c.1200G>A	c.(1198-1200)atG>atA	p.M400I	CCDC67_uc001pdo.1_Missense_Mutation_p.M400I|CCDC67_uc001pdp.3_Missense_Mutation_p.M400I	NM_181645	NP_857596	Q05D60	CCD67_HUMAN	Homo sapiens coiled-coil domain containing 67 (CCDC67), mRNA.	400										endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				AGTTAAAAATGGAATTAGAAA	0.383000														17			9		0	0	1	0	0
SYT3	84258	broad.mit.edu	37	19	51129274	51129274	+	Splice_Site	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:51129274C>T	uc002pst.3	-	5	1916	c.1282_splice	c.e5-1	p.E428_splice	SYT3_uc002psv.3_Splice_Site_p.E428_splice|SYT3_uc010ycd.2_Splice_Site_p.E428_splice	NM_032298	NP_115674	Q9BQG1	SYT3_HUMAN	Homo sapiens synaptotagmin III (SYT3), transcript variant 1, mRNA.	428						cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		TCTGCTTTTTCCTGCAGTTGG	0.547000														17			13		0	0	1	0	0
TAS2R60	338398	broad.mit.edu	37	7	143141130	143141130	+	Missense_Mutation	SNP	C	G	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:143141130C>G	uc011ktg.2	+	0	585	c.585C>G	c.(583-585)ttC>ttG	p.F195L	LOC285965_uc003wda.3_Intron	NM_177437	NP_803186	P59551	T2R60_HUMAN	Homo sapiens taste receptor, type 2, member 60 (TAS2R60), mRNA.	195					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity	p.L194F(1)		breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					TCTATCTCTTCCCTCTAAAAA	0.423000														199			56		0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121785620	121785620	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:121785620C>T	uc003ksw.1	+	8	1879	c.1673C>T	c.(1672-1674)cCt>cTt	p.P558L	SNCAIP_uc011cwl.1_Missense_Mutation_p.P116L|SNCAIP_uc003ksy.1_Missense_Mutation_p.P192L|SNCAIP_uc003ksx.1_Missense_Mutation_p.P605L|SNCAIP_uc003ksz.1_Missense_Mutation_p.P192L|SNCAIP_uc010jcu.2_Missense_Mutation_p.P154L|SNCAIP_uc011cwm.1_Missense_Mutation_p.P192L|SNCAIP_uc003kta.1_Missense_Mutation_p.P190L|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Missense_Mutation_p.P252L|SNCAIP_uc010jcx.1_Missense_Mutation_p.P498L|BC029465_uc003ktb.1_Intron|SNCAIP_uc003ktc.1_Missense_Mutation_p.P74L	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	558					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		AAGTCACTCCCTTCTTCACCC	0.408000														59			29		0	0	1	0	0
CXorf21	80231	broad.mit.edu	37	X	30578348	30578348	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:30578348G>A	uc022bui.1	-	0	125	c.125C>T	c.(124-126)tCc>tTc	p.S42F	CXorf21_uc004dcg.2_Missense_Mutation_p.S42F	NM_025159	NP_079435	Q9HAI6	CX021_HUMAN	Homo sapiens chromosome X open reading frame 21 (CXorf21), mRNA.	42										kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						AGAGGAATAGGAAAGGGTAGC	0.453000														18			63		0	0	1	0	0
KRT35	3886	broad.mit.edu	37	17	39633403	39633403	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:39633403G>A	uc002hws.3	-	6	1316	c.1273C>T	c.(1273-1275)Ccc>Tcc	p.P425S		NM_002280	NP_002271	Q92764	KRT35_HUMAN	Homo sapiens keratin 35 (KRT35), mRNA.	425	Tail.				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				GGAAGACAGGGAAGGCATGAC	0.562000														33			19		0	0	1	0	0
RAD21	5885	broad.mit.edu	37	8	117868435	117868435	+	Missense_Mutation	SNP	C	G	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:117868435C>G	uc003yod.3	-	7	1195	c.907G>C	c.(907-909)Gca>Cca	p.A303P		NM_006265	NP_006256	O60216	RAD21_HUMAN	Homo sapiens RAD21 homolog (S. pombe) (RAD21), mRNA.	303	Interaction with WAPAL and PDS5B.				apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					AATGCAAATGCTTCTTCCTCA	0.403000														217			11		0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101365135	101365135	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:101365135G>A	uc010svm.1	+	5	1080	c.508G>A	c.(508-510)Gaa>Aaa	p.E170K	ANO4_uc010svl.1_Non-coding_Transcript|ANO4_uc001thw.2_Missense_Mutation_p.E135K|ANO4_uc001thx.2_Missense_Mutation_p.E170K	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	170						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TGCCCCATGGGAAGTCCTTGG	0.368000										HNSCC(74;0.22)				58			35		0	0	1	0	0
GRHL1	29841	broad.mit.edu	37	2	10101555	10101555	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:10101555G>A	uc002raa.3	+	3	830	c.659G>A	c.(658-660)gGc>gAc	p.G220D	GRHL1_uc002rab.3_Non-coding_Transcript|GRHL1_uc002rad.3_Missense_Mutation_p.A57T|GRHL1_uc010yjb.2_Missense_Mutation_p.G69D	NM_198182	NP_937825	Q9NZI5	GRHL1_HUMAN	Homo sapiens grainyhead-like 1 (Drosophila) (GRHL1), mRNA.	220					cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		TTCAAGGAAGGCGTTCAGGAG	0.463000														46			32		0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201063015	201063015	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:201063015G>A	uc001gvv.3	-	2	620	c.393C>T	c.(391-393)ttC>ttT	p.F131F		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	131					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CTCACCCCAGGAAGACAATGG	0.577000														55			22		0	0	1	0	0
MAPT	4137	broad.mit.edu	37	17	44073845	44073845	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:44073845C>T	uc002ijr.4	+	9	1910	c.1588C>T	c.(1588-1590)Ccg>Tcg	p.P530S	MAPT_uc010dau.3_Missense_Mutation_p.P548S|MAPT_uc002ijs.4_Missense_Mutation_p.P213S|MAPT_uc002ijx.4_Missense_Mutation_p.P184S|MAPT_uc021tyv.1_Missense_Mutation_p.P213S|MAPT_uc002ijt.4_Missense_Mutation_p.P155S|MAPT_uc021tyw.1_Missense_Mutation_p.P184S|MAPT_uc002iju.4_Missense_Mutation_p.P155S|STH_uc002ijy.2_5'Flank	NM_016835	NP_058519	P10636	TAU_HUMAN	Homo sapiens microtubule-associated protein tau (MAPT), transcript variant 1, mRNA.	530					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	SH3 domain binding|apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|structural constituent of cytoskeleton			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				CTCCCGCACCCCGTCCCTTCC	0.677000														12			11		0	0	1	0	0
IGFBP6	3489	broad.mit.edu	37	12	53495840	53495840	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:53495840C>T	uc001sbu.1	+	3	678	c.612C>T	c.(610-612)tcC>tcT	p.S204S	SOAT2_uc001sbv.3_5'Flank|SOAT2_uc009zms.3_5'Flank	NM_002178	NP_002169	P24592	IBP6_HUMAN	Homo sapiens insulin-like growth factor binding protein 6 (IGFBP6), mRNA.	204	Thyroglobulin type-1.				negative regulation of cell proliferation|regulation of cell growth|signal transduction					large_intestine(1)|lung(3)|ovary(1)|pancreas(1)	6						GCCGCTCCTCCCAGGGGCAGC	0.612000														37			17		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76482354	76482354	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:76482354G>A	uc010dhp.2	-	44	7178	c.7053C>T	c.(7051-7053)ttC>ttT	p.F2351F		NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AGGTGAACACGAAGTACAGCT	0.627000														19			5		0	0	1	0	0
ITGAX	3687	broad.mit.edu	37	16	31391650	31391650	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:31391650G>A	uc002ebt.3	+	26	3191	c.3124G>A	c.(3124-3126)Gag>Aag	p.E1042K	ITGAX_uc002ebu.1_Missense_Mutation_p.E1042K	NM_000887	NP_000878	P20702	ITAX_HUMAN	Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.	1042					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CGTCCAGGAGGAGCTGGATTT	0.622000														24			12		0	0	1	0	0
CPZ	8532	broad.mit.edu	37	4	8621267	8621267	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:8621267G>A	uc003glm.3	+	10	2056	c.1882G>A	c.(1882-1884)Gac>Aac	p.D628N	CPZ_uc003gll.3_Non-coding_Transcript|CPZ_uc003glo.3_Missense_Mutation_p.D617N|CPZ_uc003gln.3_Missense_Mutation_p.D491N	NM_001014447	NP_001014448	Q66K79	CBPZ_HUMAN	Homo sapiens carboxypeptidase Z (CPZ), transcript variant 1, mRNA.	628					Wnt receptor signaling pathway|proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GCCCTCGGCCGACGGGAGTAA	0.716000														26			20		0	0	1	0	0
KIF6	221458	broad.mit.edu	37	6	39607459	39607459	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:39607459C>T	uc003oot.2	-	3	421	c.326G>A	c.(325-327)gGg>gAg	p.G109E	KIF6_uc010jxa.1_5'UTR|KIF6_uc011dua.1_Missense_Mutation_p.G109E|KIF6_uc010jxb.1_Missense_Mutation_p.G109E	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN	Homo sapiens kinesin family member 6 (KIF6), mRNA.	109	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CTCTGCACCCCCTGTGATAGT	0.423000														139			31		0	0	1	0	0
CABP4	57010	broad.mit.edu	37	11	67225861	67225861	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:67225861G>A	uc001olo.3	+	4	748	c.671G>A	c.(670-672)gGa>gAa	p.G224E	CABP4_uc001oln.3_Missense_Mutation_p.G119E	NM_145200	NP_660201	P57796	CABP4_HUMAN	Homo sapiens calcium binding protein 4 (CABP4), mRNA.	224	EF-hand 3.				visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding			central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			GACAGGGATGGACGAATTACG	0.602000														50			17		0	0	1	0	0
JAKMIP3	282973	broad.mit.edu	37	10	133930898	133930898	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:133930898G>A	uc001lkx.4	+	1	453	c.453G>A	c.(451-453)aaG>aaA	p.K151K		NM_001105521	NP_001098991			Homo sapiens Janus kinase and microtubule interacting protein 3 (JAKMIP3), mRNA.											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		AGGTGGAGAAGGTCAAGATGC	0.622000														41			21		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92088221	92088221	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:92088221G>A	uc001pdj.4	+	0	2960	c.2943G>A	c.(2941-2943)ggG>ggA	p.G981G		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	981	Cadherin 9.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ACTATAATGGGAGATTTGAAA	0.458000										TCGA Ovarian(4;0.039)				9			3		0	0	1	0	0
CNGB3	54714	broad.mit.edu	37	8	87623858	87623858	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:87623858C>T	uc003ydx.3	-	13	1668	c.1620G>A	c.(1618-1620)ttG>ttA	p.L540L	CNGB3_uc010maj.3_Silent_p.L402L	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA.	540					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						GAACGGATTTCAATCTTAGCA	0.328000														30			95		0	0	1	0	0
CPXM2	119587	broad.mit.edu	37	10	125622205	125622205	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:125622205G>A	uc001lhk.1	-	2	763	c.438C>T	c.(436-438)atC>atT	p.I146I	CPXM2_uc001lhj.3_Non-coding_Transcript	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 2 (CPXM2), mRNA.	146	F5/8 type C.				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		GGAAGTCTGTGATTTTTAAGG	0.498000														33			16		0	0	1	0	0
ALB	213	broad.mit.edu	37	4	74276032	74276032	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:74276032G>A	uc003hgs.4	+	5	692	c.619G>A	c.(619-621)Gat>Aat	p.D207N	ALB_uc011cbe.2_5'UTR|ALB_uc003hgw.4_Intron|ALB_uc011cbf.2_Missense_Mutation_p.D97N	NM_000477	NP_000468	P02768	ALBU_HUMAN	Homo sapiens albumin (ALB), mRNA.	207	Albumin 1.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	DNA binding|antioxidant activity|chaperone binding|copper ion binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	TTTGTAGCTCGATGAACTTCG	0.383000														32			15		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9017418	9017418	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:9017418G>A	uc002mkp.3	-	25	38110	c.37906C>T	c.(37906-37908)Ctg>Ttg	p.L12636L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12638	SEA 4.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGCTGGCTCAGCTCCCAGTAT	0.572000														104			51		0	0	1	0	0
SLC4A2	6522	broad.mit.edu	37	7	150767594	150767594	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:150767594C>T	uc022apz.1	+	10	2540	c.1500C>T	c.(1498-1500)tcC>tcT	p.S500S	SLC4A2_uc003wit.4_Silent_p.S500S|SLC4A2_uc011kve.2_Silent_p.S491S|SLC4A2_uc003wiu.4_Silent_p.S486S	NM_001199692	NP_001186621	P04920	B3A2_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1) (SLC4A2), transcript variant 2, mRNA.	500					bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCTCCAAGTCCAAGCACGAGC	0.637000														18			18		0	0	1	0	0
UBA6	55236	broad.mit.edu	37	4	68500193	68500193	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:68500193G>A	uc003hdg.4	-	20	1938	c.1886C>T	c.(1885-1887)tCc>tTc	p.S629F	UBA6_uc003hdh.1_Missense_Mutation_p.S155F	NM_018227	NP_060697	A0AVT1	UBA6_HUMAN	Homo sapiens ubiquitin-like modifier activating enzyme 6 (UBA6), mRNA.	629					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						AGCTGGAAAGGATTTTAGAGT	0.333000														54			29		0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	107006984	107006984	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:107006984C>T	uc001kyi.1	+	21	3227	c.3000C>T	c.(2998-3000)ttC>ttT	p.F1000F	SORCS3_uc010qqz.1_Non-coding_Transcript	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	1000						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CAGAATATTTCCAGTCCCAGC	0.468000														35			7		0	0	1	0	0
TFAP2B	7021	broad.mit.edu	37	6	50805720	50805720	+	Missense_Mutation	SNP	G	A	A	rs80338915		TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:50805720G>A	uc003pag.3	+	4	1020	c.854G>A	c.(853-855)cGa>cAa	p.R285Q		NM_003221	NP_003212	Q92481	AP2B_HUMAN	Homo sapiens transcription factor AP-2 beta (activating enhancer binding protein 2 beta) (TFAP2B), mRNA.	285			R -> Q (in CHAR).		nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.R285*(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					AGATCTTTGCGAGAAAGGCTA	0.438000														110			79		0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94411922	94411922	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:94411922C>T	uc011cdt.2	+	11	2249	c.1991C>T	c.(1990-1992)tCc>tTc	p.S664F	GRID2_uc011cdu.2_Missense_Mutation_p.S569F	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	664					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	ATTGAAAGTTCCATCCAGTAA	0.393000														37			33		0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42848946	42848946	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:42848946C>T	uc002otl.4	+	11	2693	c.2058C>T	c.(2056-2058)ctC>ctT	p.L686L	MEGF8_uc002otm.4_Silent_p.L227L	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.	754						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				TGCACTTGCTCACCTTTCAGC	0.617000														61			25		0	0	1	0	0
OR5P3	120066	broad.mit.edu	37	11	7847415	7847415	+	Nonsense_Mutation	SNP	A	C	C			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:7847415A>C	uc010rbg.2	-	0	105	c.105T>G	c.(103-105)taT>taG	p.Y35*		NM_153445	NP_703146	Q8WZ94	OR5P3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily P, member 3 (OR5P3), mRNA.	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGGTGACAACATAAATTCCTA	0.373000														55			15		0	0	1	0	0
ZNF81	347344	broad.mit.edu	37	X	47774667	47774667	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:47774667C>T	uc022bvq.1	+	4	871	c.622C>T	c.(622-624)Cat>Tat	p.H208Y	ZNF81_uc010nhy.2_Missense_Mutation_p.H208Y	NM_007137	NP_009068	P51508	ZNF81_HUMAN	Homo sapiens zinc finger protein 81 (ZNF81), mRNA.	208						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				CTTACATATTCATAATAAAAG	0.348000														6			23		0	0	1	0	0
SLC16A5	9121	broad.mit.edu	37	17	73094203	73094203	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:73094203C>T	uc002jmr.3	+	3	642	c.270C>T	c.(268-270)gcC>gcT	p.A90A	SLC16A5_uc002jmt.3_Silent_p.A90A|SLC16A5_uc002jmu.3_Silent_p.A90A|SLC16A5_uc010wrt.2_Silent_p.A130A	NM_004695	NP_004686	O15375	MOT6_HUMAN	Homo sapiens solute carrier family 16, member 5 (monocarboxylic acid transporter 6) (SLC16A5), mRNA.	90					organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	GCGTGCTGGCCAGCCTGGGCA	0.597000														59			64		0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27803387	27803388	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:27803387_27803388GG>AA	uc002rkz.4	+	0	3999_4000	c.3948_3949GG>AA	c.(3946-3951)agggaa>agAAaa	p.E1317K	ZNF512_uc010ylw.2_5'Flank|ZNF512_uc002rlb.3_5'Flank|ZNF512_uc010ylx.2_5'Flank|ZNF512_uc002rlc.3_5'Flank|ZNF512_uc002rla.3_5'Flank|ZNF512_uc010ylv.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.2_5'Flank	NM_032266	NP_115642	Q68DN1	CB016_HUMAN	Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA.	1317										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GTCCTTCTAGGGAATTAGCAGC	0.401000														21			15		0	0	1	0	0
CHRDL2	25884	broad.mit.edu	37	11	74415665	74415665	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:74415665C>T	uc001ovh.3	-	6	870	c.617G>A	c.(616-618)gGg>gAg	p.G206E	CHRDL2_uc001ovg.3_Missense_Mutation_p.G90E|CHRDL2_uc001ovi.3_Missense_Mutation_p.G206E|CHRDL2_uc001ovj.1_Non-coding_Transcript|CHRDL2_uc001ovk.1_Missense_Mutation_p.G206E	NM_015424	NP_056239	Q6WN34	CRDL2_HUMAN	Homo sapiens chordin-like 2 (CHRDL2), mRNA.	206					cartilage development|cell differentiation|ossification	extracellular region|mitochondrion				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					TCTCTTTCTCCCAGCATCACT	0.597000														11			16		0	0	1	0	0
STK32B	55351	broad.mit.edu	37	4	5332977	5332977	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:5332977C>T	uc003gih.1	+	3	355	c.291C>T	c.(289-291)ttC>ttT	p.F97F	STK32B_uc010ida.1_Silent_p.F50F	NM_018401	NP_060871	Q9NY57	ST32B_HUMAN	Homo sapiens serine/threonine kinase 32B (STK32B), mRNA.	97	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						AGGACATGTTCATGGTGGTGG	0.552000														43			33		0	0	1	0	0
OR1L8	138881	broad.mit.edu	37	9	125329866	125329866	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:125329866C>T	uc004bmp.1	-	0	891	c.891G>A	c.(889-891)ctG>ctA	p.L297L		NM_001004454	NP_001004454	Q8NGR8	OR1L8_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 8 (OR1L8), mRNA.	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GGCCCTGTTTCAGGTCTTTGT	0.453000														71			36		0	0	1	0	0
SLC35G5	83650	broad.mit.edu	37	8	11189329	11189329	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:11189329C>T	uc003wtp.1	+	0	835	c.714C>T	c.(712-714)ctC>ctT	p.L238L		NM_054028	NP_473369	Q96KT7	AMCL2_HUMAN	Homo sapiens solute carrier family 35, member G5 (SLC35G5), mRNA.	238						integral to membrane											TGCCAGGCCTCTTTGTGCTGC	0.607000														36			3		0	0	1	0	0
MIA2	117153	broad.mit.edu	37	14	39716716	39716716	+	Missense_Mutation	SNP	G	A	A	rs140694928	byFrequency	TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:39716716G>A	uc001wux.3	+	3	1132	c.938G>A	c.(937-939)gGa>gAa	p.G313E	MIA2_uc010amy.2_Missense_Mutation_p.G244E	NM_054024	NP_473365	Q96PC5	MIA2_HUMAN	Homo sapiens melanoma inhibitory activity 2 (MIA2), mRNA.	313						extracellular region				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		TTTGGTGGAGGATTTACAAGT	0.403000														60			37		0	0	1	0	0
DNM3	26052	broad.mit.edu	37	1	171958126	171958126	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:171958126G>A	uc001gie.3	+	3	603	c.427G>A	c.(427-429)Gtg>Atg	p.V143M	DNM3_uc001gid.4_Missense_Mutation_p.V143M|DNM3_uc009wwb.2_Missense_Mutation_p.V143M|DNM3_uc001gif.3_Missense_Mutation_p.V143M	NM_015569	NP_056384	Q9UQ16	DYN3_HUMAN	Homo sapiens dynamin 3 (DNM3), transcript variant 1, mRNA.	143					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						AATAACTAAAGTGCCTGTGGG	0.393000														9			6		0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16908678	16908678	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:16908678C>T	uc002neu.4	+	15	3862	c.3440C>T	c.(3439-3441)tCc>tTc	p.S1147F	NWD1_uc002net.4_Missense_Mutation_p.S1012F|NWD1_uc002nev.4_Missense_Mutation_p.S941F|NWD1_uc021uqg.1_Missense_Mutation_p.S1012F	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	1147							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						ATCACGGGGTCCCTTGATGCG	0.522000														141			72		0	0	1	0	0
OR52R1	119695	broad.mit.edu	37	11	4825340	4825340	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:4825340G>A	uc021qcs.1	-	0	271	c.271C>T	c.(271-273)Cat>Tat	p.H91Y		NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily R, member 1 (OR52R1), mRNA.	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCATGAGCATGAAACCAGAAT	0.527000														60			27		0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71887755	71887755	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:71887755C>T	uc010fen.3	+	44	5118	c.4977C>T	c.(4975-4977)ccC>ccT	p.P1659P	DYSF_uc010fei.3_Silent_p.P1637P|DYSF_uc010feh.3_Silent_p.P1627P|DYSF_uc002sig.4_Silent_p.P1606P|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Silent_p.P1651P|DYSF_uc010fee.3_Silent_p.P1641P|DYSF_uc010fef.3_Silent_p.P1658P|DYSF_uc002sie.3_Silent_p.P1620P|DYSF_uc010feo.3_Silent_p.P1652P|DYSF_uc010fej.3_Silent_p.P1628P|DYSF_uc010fel.3_Silent_p.P1607P|DYSF_uc010fem.3_Silent_p.P1642P|DYSF_uc002sif.3_Silent_p.P1621P|DYSF_uc010fek.3_Silent_p.P1638P|DYSF_uc010yqy.2_Silent_p.P501P|DYSF_uc010yqz.2_Silent_p.P381P	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1620	C2 5.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						ACTACATCCCCTGCACGCTGG	0.498000														45			27		0	0	1	0	0
POTEE	445582	broad.mit.edu	37	2	132021485	132021485	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:132021485G>A	uc002tsn.2	+	14	2509	c.2457G>A	c.(2455-2457)atG>atA	p.M819I	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Missense_Mutation_p.M419I|POTEE_uc002tsl.2_Missense_Mutation_p.M401I|POTEE_uc010fmy.1_Missense_Mutation_p.M283I	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	819	Actin-like.						ATP binding										GCGAGAAGATGACCCAGATCA	0.617000														142			65		0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247587879	247587879	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:247587879G>A	uc001icr.3	+	4	1272	c.1134G>A	c.(1132-1134)agG>agA	p.R378R	NLRP3_uc001ics.3_Silent_p.R378R|NLRP3_uc001icu.3_Silent_p.R378R|NLRP3_uc001icw.3_Silent_p.R378R|NLRP3_uc001icv.3_Silent_p.R378R|NLRP3_uc010pyw.2_Silent_p.R376R|NLRP3_uc001ict.1_Silent_p.R376R	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	378	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			AGGCCAAAAGGAAAGAGTACT	0.542000														32			14		0	0	1	0	0
RUNDC3B	154661	broad.mit.edu	37	7	87370852	87370852	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:87370852C>T	uc003ujb.3	+	6	1048	c.637C>T	c.(637-639)Cct>Tct	p.P213S	RUNDC3B_uc011khd.1_Missense_Mutation_p.P196S|RUNDC3B_uc011khe.2_Missense_Mutation_p.P196S|RUNDC3B_uc003ujc.3_Missense_Mutation_p.P196S|RUNDC3B_uc003ujd.3_Missense_Mutation_p.P118S	NM_138290	NP_612147	Q96NL0	RUN3B_HUMAN	Homo sapiens RUN domain containing 3B (RUNDC3B), transcript variant 1, mRNA.	213										breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					TGGCAGTTTTCCTGCTGTAAT	0.274000														28			13		0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215823125	215823125	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:215823125G>A	uc002vew.3	-	40	6213	c.5993C>T	c.(5992-5994)tCt>tTt	p.S1998F	ABCA12_uc002vev.3_Missense_Mutation_p.S1680F|ABCA12_uc010zjn.2_Missense_Mutation_p.S925F	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	1998					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GGTGGTGACAGAGTAGCCCAT	0.438000														49			19		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20975956	20975956	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:20975956G>A	uc010vbe.2	-	52	9250	c.9250C>T	c.(9250-9252)Cct>Tct	p.P3084S	DNAH3_uc010vbd.2_Missense_Mutation_p.P519S	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3084	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.P3084L(1)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TGCCCGTGAGGGTCAATCATT	0.478000														31			21		0	0	1	0	0
SPDYA	245711	broad.mit.edu	37	2	29052083	29052083	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:29052083G>A	uc002rmj.3	+	5	656	c.450G>A	c.(448-450)ggG>ggA	p.G150G	SPDYA_uc002rmi.3_Silent_p.G150G|SPDYA_uc002rmk.3_Silent_p.G150G|SPDYA_uc002rml.3_Silent_p.G150G	NM_182756	NP_877433	Q5MJ70	SPDYA_HUMAN	Homo sapiens speedy homolog A (Xenopus laevis) (SPDYA), transcript variant 1, mRNA.	150	Speedy/Ringo box; Required for CDK- binding (By similarity).				G1/S transition of mitotic cell cycle|multicellular organismal development|positive regulation of cell proliferation|response to DNA damage stimulus	nucleus	protein kinase binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(172;0.155)					GGGCTTTAGGGAAAAACTGGA	0.383000														25			13		0	0	1	0	0
UBE2O	63893	broad.mit.edu	37	17	74395863	74395863	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:74395863G>A	uc002jrm.4	-	8	1360	c.1295C>T	c.(1294-1296)cCt>cTt	p.P432L	UBE2O_uc002jrn.4_Missense_Mutation_p.P432L|UBE2O_uc002jrl.4_Missense_Mutation_p.P35L	NM_022066	NP_071349	Q9C0C9	UBE2O_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2O (UBE2O), mRNA.	432							ATP binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						CGTCTCCTCAGGGCTGGCAGA	0.617000														44			34		0	0	1	0	0
ACSBG1	23205	broad.mit.edu	37	15	78473204	78473204	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:78473204G>A	uc002bdh.3	-	8	1352	c.1146C>T	c.(1144-1146)atC>atT	p.I382I	ACSBG1_uc010umx.2_Silent_p.I140I|ACSBG1_uc010umw.2_Silent_p.I378I|ACSBG1_uc010umy.2_Silent_p.I275I	NM_015162	NP_055977	Q96GR2	ACBG1_HUMAN	Homo sapiens acyl-CoA synthetase bubblegum family member 1 (ACSBG1), transcript variant 1, mRNA.	382					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						TGCGCTCCATGATCTTCTCCC	0.627000														62			33		0	0	1	0	0
SH3GL2	6456	broad.mit.edu	37	9	17795603	17795604	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:17795603_17795604GG>AA	uc003zna.3	+	8	1209_1210	c.921_922GG>AA	c.(919-924)ggggag>ggAAag	p.E308K	SH3GL2_uc011lmy.2_Missense_Mutation_p.E261K	NM_003026	NP_003017	Q99962	SH3G2_HUMAN	Homo sapiens SH3-domain GRB2-like 2 (SH3GL2), mRNA.	308	SH3.				axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	Golgi membrane|cytosol|plasma membrane	identical protein binding|lipid binding	p.E308K(2)|p.G307R(1)		NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		AAAATGAAGGGGAGTTGGGATT	0.480000														27			11		0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53834367	53834367	+	Missense_Mutation	SNP	G	A	A	rs148898845		TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:53834367G>A	uc003dgv.4	+	40	5178	c.5015G>A	c.(5014-5016)cGa>cAa	p.R1672Q	CACNA1D_uc003dgu.4_Missense_Mutation_p.R1692Q|CACNA1D_uc003dgy.4_Missense_Mutation_p.R1657Q|CACNA1D_uc003dgw.4_Missense_Mutation_p.R1339Q|CACNA1D_uc003dgx.1_Missense_Mutation_p.R848Q|CACNA1D_uc011bes.2_Non-coding_Transcript	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	1672					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	GAAACAAAACGAGAAGAAGAA	0.468000														50			21		0	0	1	0	0
PSMA8	143471	broad.mit.edu	37	18	23724572	23724572	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr18:23724572C>T	uc002kvq.3	+	1	266	c.152C>T	c.(151-153)tCt>tTt	p.S51F	PSMA8_uc002kvo.3_Intron|PSMA8_uc002kvp.3_Missense_Mutation_p.S51F|PSMA8_uc002kvr.3_Missense_Mutation_p.S25F	NM_144662	NP_653263	Q8TAA3	PSA7L_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, alpha type, 8 (PSMA8), transcript variant 1, mRNA.	51					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	threonine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|skin(2)	16	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)			GAAAAAAAATCTGTTGCCAAG	0.358000														61			35		0	0	1	0	0
HEATR8	374977	broad.mit.edu	37	1	55119800	55119800	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:55119800G>A	uc010ooe.1	+	2	1525	c.1201G>A	c.(1201-1203)Gac>Aac	p.D401N	HEATR8_uc001cxq.3_Non-coding_Transcript|HEATR8_uc001cxo.2_Missense_Mutation_p.D401N|HEATR8_uc010ooc.1_Intron|HEATR8_uc010ood.1_Intron|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Non-coding_Transcript|HEATR8_uc010oog.1_Missense_Mutation_p.D401N|HEATR8_uc010ooh.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Non-coding_Transcript|HEATR8_uc001cxt.1_Non-coding_Transcript	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA.	401						integral to membrane	binding			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CGCAGGCAAGGACGCCGTGAC	0.597000														8			7		0	0	1	0	0
SERPINI2	5276	broad.mit.edu	37	3	167183300	167183300	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:167183300G>A	uc003fes.1	-	3	741	c.670C>T	c.(670-672)Cca>Tca	p.P224S	SERPINI2_uc003fer.1_Missense_Mutation_p.P214S|SERPINI2_uc003fet.1_Missense_Mutation_p.P214S	NM_006217	NP_006208	O75830	SPI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade I (pancpin), member 2 (SERPINI2), mRNA.	214					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.P214S(1)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						TTCATCATTGGAATTTTGACA	0.318000														27			8		0	0	1	0	0
ZBTB7C	201501	broad.mit.edu	37	18	45566602	45566602	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr18:45566602C>T	uc010dnv.3	-	2	1379	c.943G>A	c.(943-945)Gag>Aag	p.E315K	ZBTB7C_uc002ldb.3_Missense_Mutation_p.E293K|ZBTB7C_uc010dnu.3_Missense_Mutation_p.E302K|ZBTB7C_uc010dnw.3_Missense_Mutation_p.E293K|ZBTB7C_uc010dnx.1_Missense_Mutation_p.E293K|ZBTB7C_uc010dny.1_Missense_Mutation_p.E293K|ZBTB7C_uc010dnz.1_Missense_Mutation_p.E315K|ZBTB7C_uc010doi.1_Missense_Mutation_p.E293K|ZBTB7C_uc010doj.1_Missense_Mutation_p.E302K|ZBTB7C_uc010dok.1_Missense_Mutation_p.E342K|ZBTB7C_uc010dol.1_Missense_Mutation_p.E302K|ZBTB7C_uc010doa.1_Missense_Mutation_p.E315K|ZBTB7C_uc010dob.1_Missense_Mutation_p.E293K|ZBTB7C_uc010doc.1_Missense_Mutation_p.E302K|ZBTB7C_uc010dod.1_Missense_Mutation_p.E315K|ZBTB7C_uc010doe.1_Missense_Mutation_p.E293K|ZBTB7C_uc010dof.1_Missense_Mutation_p.E293K|ZBTB7C_uc010dog.1_Missense_Mutation_p.E293K|ZBTB7C_uc010doh.1_Missense_Mutation_p.E302K|ZBTB7C_uc010dom.1_Missense_Mutation_p.E302K|ZBTB7C_uc010don.1_Missense_Mutation_p.E301K|ZBTB7C_uc010dop.1_Missense_Mutation_p.E293K|ZBTB7C_uc010doq.1_Missense_Mutation_p.E302K|ZBTB7C_uc010dor.1_Missense_Mutation_p.E315K|ZBTB7C_uc010dos.1_Missense_Mutation_p.E293K|ZBTB7C_uc010dot.1_Missense_Mutation_p.E293K|ZBTB7C_uc010doo.1_Missense_Mutation_p.E293K|ZBTB7C_uc010dou.1_Missense_Mutation_p.E302K	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	Homo sapiens zinc finger and BTB domain containing 7C (ZBTB7C), mRNA.	293	Pro-rich.					intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						TCCTCCTTCTCCTCCTCCTTG	0.617000														63			15		0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42235978	42235978	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:42235978G>A	uc003ose.2	-	4	1914	c.1351C>T	c.(1351-1353)Cgc>Tgc	p.R451C	TRERF1_uc011duq.1_Missense_Mutation_p.R451C|TRERF1_uc003osb.2_Missense_Mutation_p.R290C|TRERF1_uc003osc.2_Missense_Mutation_p.R290C|TRERF1_uc003osd.2_Missense_Mutation_p.R451C	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA.	451	Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			AGGAGGGGGCGATGGGGGAGG	0.637000														72			54		0	0	1	0	0
IQCJ-SCHIP1	100505385	broad.mit.edu	37	3	158970531	158970531	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:158970531G>A	uc003fcq.2	+	2	271	c.90G>A	c.(88-90)atG>atA	p.M30I	IQCJ-SCHIP1_uc003fcr.2_Intron|IQCJ-SCHIP1_uc003fco.3_Missense_Mutation_p.M30I|IQCJ-SCHIP1_uc003fcp.2_Missense_Mutation_p.M30I|IQCJ-SCHIP1_uc010hvy.2_Intron	NM_001197113	NP_001184042	Q9P0W5	SCHI1_HUMAN	Homo sapiens IQCJ-SCHIP1 readthrough (IQCJ-SCHIP1), transcript variant 1, mRNA.	0						cytoplasm	identical protein binding|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						AGCTGGCCATGGATGCAGAGA	0.333000														20			12		0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32631980	32631980	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:32631980G>A	uc003zrg.1	-	0	3688	c.3598C>T	c.(3598-3600)Cgc>Tgc	p.R1200C	AX747113_uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	1200					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GTCTCACAGCGAACATACTCT	0.428000														77			50		0	0	1	0	0
DTX3L	151636	broad.mit.edu	37	3	122289499	122289499	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:122289499C>T	uc003efk.3	+	3	2222	c.2133C>T	c.(2131-2133)tcC>tcT	p.S711S	DTX3L_uc010hrj.3_Silent_p.S199S|DTX3L_uc021xdb.1_3'UTR	NM_138287	NP_612144	Q8TDB6	DTX3L_HUMAN	Homo sapiens deltex 3-like (Drosophila) (DTX3L), mRNA.	711					histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		ACAAAACATCCCGGTTTGGAG	0.423000														37			19		0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70331460	70331460	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:70331460C>T	uc001oqc.3	-	20	4852	c.4740G>A	c.(4738-4740)ctG>ctA	p.L1580L	SHANK2_uc010rqn.2_Silent_p.L1056L|SHANK2_uc001opz.3_Silent_p.L1051L|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	1267					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TTGGTGAATCCAGTCCTTCCC	0.552000														55			34		0	0	1	0	0
LLPH	84298	broad.mit.edu	37	12	66517682	66517682	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:66517682C>T	uc010ssw.2	-	2	384	c.328G>A	c.(328-330)Gag>Aag	p.E110K	LLPH_uc010ssx.2_Non-coding_Transcript	NM_032338	NP_115714	Q9BRT6	LLPH_HUMAN	Homo sapiens LLP homolog, long-term synaptic facilitation (Aplysia) (LLPH), mRNA.	110	Lys-rich.							p.R109*(1)		central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|skin(1)	5						TTTCTTTTCTCTCGCTTTGCC	0.423000														58			21		0	0	1	0	0
STAC	6769	broad.mit.edu	37	3	36570342	36570342	+	Silent	SNP	G	A	A	rs144959929	byFrequency	TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:36570342G>A	uc003cgh.1	+	9	1014	c.975G>A	c.(973-975)ggG>ggA	p.G325G	STAC_uc011aya.1_Silent_p.G264G	NM_003149	NP_003140	Q99469	STAC_HUMAN	Homo sapiens SH3 and cysteine rich domain (STAC), mRNA.	325	SH3.				intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						CCTTTCAGGGGAAAATTCAAG	0.338000														21			3		0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52321563	52321563	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:52321563G>A	uc003xqu.4	-	16	2722	c.2621C>T	c.(2620-2622)cCc>cTc	p.P874L	PXDNL_uc003xqt.4_Non-coding_Transcript	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	874					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CGTCGCAGAGGGACGGCCGCT	0.652000														9			39		0	0	1	0	0
BCL2L15	440603	broad.mit.edu	37	1	114424588	114424588	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:114424588G>A	uc001edw.3	-	2	453	c.281C>T	c.(280-282)tCt>tTt	p.S94F	LOC100287722_uc001edv.1_Intron|BCL2L15_uc001edx.3_Intron|BCL2L15_uc001edy.3_Intron|BCL2L15_uc001edz.1_Non-coding_Transcript	NM_001010922	NP_001010922	Q5TBC7	B2L15_HUMAN	Homo sapiens BCL2-like 15 (BCL2L15), mRNA.	94					apoptosis					breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)	9	Lung SC(450;0.184)	all_cancers(81;3.95e-08)|all_epithelial(167;9.95e-08)|all_lung(203;1.31e-05)|Lung NSC(69;2.46e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTTGCTGAGAGATTCCACAGT	0.473000														20			7		0	0	1	0	0
SEMA4G	57715	broad.mit.edu	37	10	102738691	102738692	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:102738691_102738692GG>AA	uc001krw.2	+	6	1113_1114	c.729_730GG>AA	c.(727-732)acggag>acAAag	p.E244K	SEMA4G_uc001krv.3_Non-coding_Transcript|SEMA4G_uc010qpt.1_Missense_Mutation_p.E244K|SEMA4G_uc001krx.3_Missense_Mutation_p.E244K|MRPL43_uc001kry.1_3'UTR|MRPL43_uc010qpu.1_3'UTR	NM_017893	NP_060363	Q9NTN9	SEM4G_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G (SEMA4G), transcript variant 1, mRNA.	244	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		ACTTCTTCACGGAGCGTGCCAC	0.604000														26			14		0	0	1	0	0
BLK	640	broad.mit.edu	37	8	11407759	11407759	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:11407759G>A	uc003wty.3	+	5	1041	c.460G>A	c.(460-462)Gaa>Aaa	p.E154K		NM_001715	NP_001706	P51451	BLK_HUMAN	Homo sapiens B lymphoid tyrosine kinase (BLK), mRNA.	154	SH2.				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		CAGAGAGAGTGAAACCAACAA	0.572000														13			15		0	0	1	0	0
SYCP1	6847	broad.mit.edu	37	1	115401232	115401232	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:115401232G>A	uc001efr.3	+	5	565	c.356G>A	c.(355-357)tGg>tAg	p.W119*	SYCP1_uc010owt.2_Non-coding_Transcript|SYCP1_uc001efq.3_Nonsense_Mutation_p.W119*|SYCP1_uc009wgw.3_Nonsense_Mutation_p.W119*	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA.	119					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATAAAAAAATGGAAAGTAAGT	0.328000														47			13		0	0	1	0	0
PPP2R2B	5521	broad.mit.edu	37	5	146080637	146080637	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:146080637G>A	uc011dbv.2	-	3	576	c.313C>T	c.(313-315)Cgg>Tgg	p.R105W	PPP2R2B_uc010jgm.3_Missense_Mutation_p.R36W|PPP2R2B_uc003loe.3_Missense_Mutation_p.R47W|PPP2R2B_uc003log.4_Missense_Mutation_p.R47W|PPP2R2B_uc003lof.4_Missense_Mutation_p.R47W|PPP2R2B_uc003loi.4_Missense_Mutation_p.R50W|PPP2R2B_uc003loh.4_Missense_Mutation_p.R47W|PPP2R2B_uc003lok.4_Missense_Mutation_p.R36W|PPP2R2B_uc003loj.4_Missense_Mutation_p.R27W|PPP2R2B_uc011dbu.2_Missense_Mutation_p.R53W	NM_181675	NP_858061	Q00005	2ABB_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B, beta (PPP2R2B), transcript variant 3, mRNA.	47					apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATTACAACCCGACCCCCCTTG	0.438000														324			208		0	0	1	0	0
GPR126	57211	broad.mit.edu	37	6	142736952	142736952	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:142736952C>T	uc010khe.3	+	19	3100	c.2689C>T	c.(2689-2691)Ccc>Tcc	p.P897S	GPR126_uc010khc.3_Missense_Mutation_p.P897S|GPR126_uc010khd.3_Missense_Mutation_p.P869S|GPR126_uc010khf.3_Missense_Mutation_p.P869S	NM_198569	NP_940971	Q86SQ4	GP126_HUMAN	Homo sapiens G protein-coupled receptor 126 (GPR126), transcript variant b1, mRNA.	897					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P868S(1)|p.P897S(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		AAGGGATTATCCCTCCAAAAT	0.403000														15			24		0	0	1	0	0
KCND1	3750	broad.mit.edu	37	X	48820004	48820004	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:48820004G>A	uc004dlx.1	-	5	3355	c.1782C>T	c.(1780-1782)ttC>ttT	p.F594F	KCND1_uc004dlw.1_Silent_p.F217F	NM_004979	NP_004970	Q9NSA2	KCND1_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 1 (KCND1), mRNA.	594						voltage-gated potassium channel complex	metal ion binding|voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24						TGGCAGCCACGAAGTCCCGGC	0.617000														6			8		0	0	1	0	0
VAT1L	57687	broad.mit.edu	37	16	77850847	77850847	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:77850847G>A	uc002ffg.1	+	1	360	c.263G>A	c.(262-264)cGa>cAa	p.R88Q		NM_020927	NP_065978	Q9HCJ6	VAT1L_HUMAN	Homo sapiens vesicle amine transport protein 1 homolog (T. californica)-like (VAT1L), mRNA.	88							oxidoreductase activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						TTGATGGTGCGACAAGGGAAT	0.448000														35			22		0	0	1	0	0
BVES	11149	broad.mit.edu	37	6	105573340	105573340	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:105573340C>T	uc003pqw.3	-	3	622	c.465G>A	c.(463-465)ttG>ttA	p.L155L	BVES_uc003pqx.3_Silent_p.L155L|BVES_uc003pqy.3_Silent_p.L155L	NM_147147	NP_671488	Q8NE79	POPD1_HUMAN	Homo sapiens blood vessel epicardial substance (BVES), transcript variant B, mRNA.	155					epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of Rac GTPase activity|regulation of cell shape|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity			NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				GGCCCTTTTTCAAGGTTTGGA	0.433000														45			56		0	0	1	0	0
EFCAB5	374786	broad.mit.edu	37	17	28407958	28407958	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:28407958G>A	uc002het.3	+	16	3577	c.3385G>A	c.(3385-3387)Gaa>Aaa	p.E1129K	EFCAB5_uc010cse.3_Missense_Mutation_p.E884K|EFCAB5_uc010csf.3_Intron	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN	Homo sapiens EF-hand calcium binding domain 5 (EFCAB5), transcript variant 1, mRNA.	1129							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						AGATCCCCACGAAATAAACAT	0.403000														34			18		0	0	1	0	0
AHSP	51327	broad.mit.edu	37	16	31539946	31539946	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:31539946C>T	uc002ecj.3	+	2	328	c.243C>T	c.(241-243)ttC>ttT	p.F81F		NM_016633	NP_057717	Q9NZD4	AHSP_HUMAN	Homo sapiens alpha hemoglobin stabilizing protein (AHSP), mRNA.	81					hemoglobin metabolic process|hemopoiesis|protein folding|protein stabilization	hemoglobin complex	hemoglobin binding|unfolded protein binding			lung(2)	2						CCAACCCTTTCCTGGCCAAGT	0.587000														26			10		0	0	1	0	0
CCT8L2	150160	broad.mit.edu	37	22	17072509	17072509	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr22:17072509C>T	uc002zlp.1	-	0	1192	c.932G>A	c.(931-933)gGc>gAc	p.G311D		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA.	311					cellular protein metabolic process	cytoplasm	ATP binding|anion channel activity|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CACCACGATGCCATACTTGTC	0.552000														243			55		0	0	1	0	0
OR52A5	390054	broad.mit.edu	37	11	5153120	5153120	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:5153120G>A	uc010qyx.2	-	0	753	c.753C>T	c.(751-753)ttC>ttT	p.F251F		NM_001005160	NP_001005160	Q9H2C5	O52A5_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily A, member 5 (OR52A5), mRNA.	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		AGAACTGTAGGAAGACACAAA	0.418000														44			25		0	0	1	0	0
NCOA1	8648	broad.mit.edu	37	2	24991147	24991147	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:24991147G>A	uc002rfk.3	+	20	4472	c.4213G>A	c.(4213-4215)Ggg>Agg	p.G1405R	NCOA1_uc010eye.3_3'UTR|NCOA1_uc002rfi.3_3'UTR|NCOA1_uc002rfj.3_3'UTR|NCOA1_uc002rfl.3_Missense_Mutation_p.G1404R|NCOA1_uc010eyf.3_3'UTR	NM_003743	NP_003734	Q15788	NCOA1_HUMAN	Homo sapiens nuclear receptor coactivator 1 (NCOA1), transcript variant 1, mRNA.	1405								p.G1404G(1)	PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTGGTAGGCGGGGACCCTTA	0.552000			T	PAX3	alveolar rhadomyosarcoma									69			39		0	0	1	0	0
USP12	219333	broad.mit.edu	37	13	27690693	27690693	+	Missense_Mutation	SNP	T	G	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr13:27690693T>G	uc001uqy.3	-	1	346	c.89A>C	c.(88-90)gAa>gCa	p.E30A		NM_182488	NP_872294	O75317	UBP12_HUMAN	Homo sapiens ubiquitin specific peptidase 12 (USP12), mRNA.	30					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Lung SC(185;0.0161)		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)		CGGAAACTGTTCTGGACCAAT	0.358000														32			16		0	0	1	0	0
C14orf159	80017	broad.mit.edu	37	14	91647655	91647655	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:91647655C>T	uc001xyw.2	+	7	1208	c.856C>T	c.(856-858)Cct>Tct	p.P286S	C14orf159_uc010atv.1_Non-coding_Transcript|C14orf159_uc001xyy.2_Missense_Mutation_p.P286S|C14orf159_uc001xyz.2_Missense_Mutation_p.P157S|C14orf159_uc001xzb.2_Missense_Mutation_p.P281S|C14orf159_uc001xyx.2_Missense_Mutation_p.P269S|C14orf159_uc001xzc.2_Missense_Mutation_p.P281S|C14orf159_uc001xza.2_Missense_Mutation_p.P286S|C14orf159_uc001xyv.2_Missense_Mutation_p.P286S|C14orf159_uc001xze.2_Missense_Mutation_p.P281S	NM_001102368	NP_001095838	Q7Z3D6	CN159_HUMAN	Homo sapiens chromosome 14 open reading frame 159 (C14orf159), transcript variant 4, mRNA.	281						mitochondrion				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		TTCCCAAGATCCTCTGCACTA	0.498000														44			12		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168101260	168101260	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:168101260C>T	uc002udx.3	+	8	3447	c.3358C>T	c.(3358-3360)Cat>Tat	p.H1120Y	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.H945Y|XIRP2_uc010fpq.3_Missense_Mutation_p.H898Y|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	945					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TGAAGAAATTCATAAGGGAGA	0.378000														18			10		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181686434	181686434	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:181686434C>T	uc009wxt.3	+	10	1716	c.1521C>T	c.(1519-1521)ctC>ctT	p.L507L	CACNA1E_uc001gow.3_Silent_p.L507L|CACNA1E_uc009wxs.3_Silent_p.L507L	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	507					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TCACCCACCTCCTCTGTAAGT	0.547000														45			16		0	0	1	0	0
AGBL1	123624	broad.mit.edu	37	15	86808051	86808051	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:86808051G>A	uc002blz.1	+	9	1591	c.1511G>A	c.(1510-1512)cGa>cAa	p.R504Q	AGBL1_uc002bma.1_Missense_Mutation_p.R235Q|AGBL1_uc002bmb.1_Missense_Mutation_p.R198Q	NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA.	504					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						ATGTTGGAACGAAAATGTGGA	0.443000														35			14		0	0	1	0	0
RBM47	54502	broad.mit.edu	37	4	40434738	40434738	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:40434738G>A	uc003gvc.2	-	5	2182	c.1472C>T	c.(1471-1473)gCc>gTc	p.A491V	RBM47_uc003gvd.2_Missense_Mutation_p.A422V|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Missense_Mutation_p.A453V	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.	491	Ala-rich.					nucleus	RNA binding|nucleotide binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						ggctgcggcggcagcagcACT	0.587000														11			10		0	0	1	0	0
GC	2638	broad.mit.edu	37	4	72623842	72623842	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:72623842C>T	uc010iif.3	-	7	900	c.805G>A	c.(805-807)Gat>Aat	p.D269N	GC_uc003hge.3_Missense_Mutation_p.D250N|GC_uc021xpb.1_Missense_Mutation_p.D250N	NM_001204307	NP_001191236	P02774	VTDB_HUMAN	Homo sapiens group-specific component (vitamin D binding protein) (GC), transcript variant 3, mRNA.	250	Albumin 2.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity	p.A269A(1)|p.S268F(1)		endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	GGCAAAACATCCTCCAGATCA	0.378000														60			41		0	0	1	0	0
C12orf63	374467	broad.mit.edu	37	12	97045486	97045486	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:97045486C>T	uc021rcc.1	+	2	346	c.268C>T	c.(268-270)Cct>Tct	p.P90S				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	90										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						TAAAACATTTCCTATTAGCCA	0.383000														44			13		0	0	1	0	0
TCRBV20S1	0	broad.mit.edu	37	7	142032474	142032474	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:142032474C>T	uc011krs.1	+	1	327	c.294C>T	c.(292-294)ttC>ttT	p.F98F	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron					Homo sapiens mRNA for T cell receptor V beta6-D-J, partial cds.																		CTCTGAAGTTCCAGCGCACAC	0.557000														38			5		0	0	1	0	0
EIF2C4	192670	broad.mit.edu	37	1	36315815	36315815	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:36315815C>T	uc001bzj.2	+	15	2423	c.2233C>T	c.(2233-2235)Cca>Tca	p.P745S		NM_017629	NP_060099	Q9HCK5	AGO4_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 4 (EIF2C4), mRNA.	745	Piwi.				mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	RNA binding|protein binding			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CATCACACATCCATCTGAGTT	0.388000														83			58		0	0	1	0	0
LRRC16A	55604	broad.mit.edu	37	6	25600813	25600813	+	Missense_Mutation	SNP	T	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:25600813T>A	uc011djw.2	+	32	3759	c.3391T>A	c.(3391-3393)Tcc>Acc	p.S1131T	LRRC16A_uc010jpy.3_Missense_Mutation_p.S1131T	NM_017640	NP_060110	Q5VZK9	LR16A_HUMAN	Homo sapiens leucine rich repeat containing 16A (LRRC16A), transcript variant 1, mRNA.	1131					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						AACACCTGACTCCTTTGAAGA	0.552000														41			12		0	0	1	0	0
GPR119	139760	broad.mit.edu	37	X	129518641	129518641	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:129518641C>T	uc011muv.2	-	0	871	c.781G>A	c.(781-783)Gaa>Aaa	p.E261K		NM_178471	NP_848566	Q8TDV5	GP119_HUMAN	Homo sapiens G protein-coupled receptor 119 (GPR119), mRNA.	261						integral to membrane|plasma membrane	lipid binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						AGGTACCGTTCCAGCACTAGG	0.572000														17			41		0	0	1	0	0
GTF3C1	2975	broad.mit.edu	37	16	27492429	27492429	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:27492429G>A	uc002dov.2	-	26	4207	c.4167C>T	c.(4165-4167)atC>atT	p.I1389I	GTF3C1_uc002dou.3_Silent_p.I1389I	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA.	1389						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GTGTGTCTGGGATTTCAAGGT	0.483000														56			31		0	0	1	0	0
FAM86B1	85002	broad.mit.edu	37	8	12042957	12042957	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:12042957G>A	uc010lse.3	-	5	763	c.718C>T	c.(718-720)Cgg>Tgg	p.R240W	LOC100506990_uc011kxp.1_Intron|FAM86B1_uc003wvf.4_Non-coding_Transcript|FAM86B1_uc010lsd.3_Non-coding_Transcript|FAM86B1_uc003wvh.4_Missense_Mutation_p.R83W|FAM86B1_uc003wvi.4_Missense_Mutation_p.R46W|FAM86B1_uc010lsf.3_Missense_Mutation_p.R83W|FAM86B1_uc010lsg.3_Non-coding_Transcript|FAM86B1_uc003wvl.4_Non-coding_Transcript|FAM86B1_uc011kxq.2_Missense_Mutation_p.R46W	NM_001083537	NP_001077006	Q8N7N1	F86B1_HUMAN	Homo sapiens family with sequence similarity 86, member B1 (FAM86B1), transcript variant 1, mRNA.	240										kidney(1)|prostate(1)|stomach(1)	3			STAD - Stomach adenocarcinoma(15;0.033)	COAD - Colon adenocarcinoma(149;0.0965)		TCAGGAGCCCGCTTGTGCTCC	0.632000														41			9		0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240371229	240371229	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:240371229G>A	uc010pye.2	+	5	3354	c.3129G>A	c.(3127-3129)gcG>gcA	p.A1043A	FMN2_uc010pyd.2_Silent_p.A1039A	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	1039	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TTCCCGGAGCGGGCATACCCC	0.731000														70			6		0	0	1	0	0
HMGN3	9324	broad.mit.edu	37	6	79912032	79912032	+	Silent	SNP	A	G	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:79912032A>G	uc021zbz.1	-	4	400	c.222T>C	c.(220-222)ggT>ggC	p.G74G	HMGN3_uc003pit.3_Silent_p.G74G|HMGN3_uc003pis.3_Splice_Site_p.G74_splice|HMGN3_uc003piu.2_Silent_p.G74G	NM_001201363	NP_001188292	Q15651	HMGN3_HUMAN	Homo sapiens high mobility group nucleosomal binding domain 3 (HMGN3), transcript variant 4, mRNA.	74					chromatin modification	chromatin|cytoplasm|nucleus	DNA binding|thyroid hormone receptor binding			central_nervous_system(1)|kidney(2)|lung(1)	4		all_cancers(76;0.000116)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0393)		BRCA - Breast invasive adenocarcinoma(397;0.125)		ATGGTGCAGTACCTTCCTTTC	0.413000														39			54		0	0	1	0	0
C1QTNF5	114902	broad.mit.edu	37	11	119213613	119213613	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:119213613C>T	uc010rzg.1	-	7	1159	c.999G>A	c.(997-999)caG>caA	p.Q333Q	C1QTNF5_uc001pwj.2_5'UTR			Q9BY79	MFRP_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 5 (C1QTNF5), mRNA.	484	CUB 2.				embryo development	integral to membrane				endometrium(1)|lung(2)	3		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		AGGTAGGTGGCTGAGAAGCCT	0.622000														15			9		0	0	1	0	0
ZIC1	7545	broad.mit.edu	37	3	147128162	147128162	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:147128162C>T	uc003ewe.3	+	0	982	c.263C>T	c.(262-264)tCc>tTc	p.S88F		NM_003412	NP_003403	Q15915	ZIC1_HUMAN	Homo sapiens Zic family member 1 (ZIC1), mRNA.	88					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						CACGTCGGCTCCTATTCCAGC	0.692000														8			5		0	0	1	0	0
CALCR	799	broad.mit.edu	37	7	93073020	93073020	+	Missense_Mutation	SNP	T	C	C			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:93073020T>C	uc003umv.2	-	10	1100	c.800A>G	c.(799-801)aAc>aGc	p.N267S	CALCR_uc003umt.1_Non-coding_Transcript|CALCR_uc003ums.1_Non-coding_Transcript|CALCR_uc022ahi.1_Missense_Mutation_p.N233S|CALCR_uc003umw.2_Missense_Mutation_p.N233S	NM_001164737	NP_001158209	P30988	CALCR_HUMAN	Homo sapiens calcitonin receptor (CALCR), transcript variant 1, mRNA.	249					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	CCAGAAATAGTTGCAGGCCAT	0.443000														49			35		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38627422	38627422	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:38627422G>A	uc021wvo.1	-	14	2599	c.2547C>T	c.(2545-2547)atC>atT	p.I849I	SCN5A_uc021wvk.1_Silent_p.I849I|SCN5A_uc021wvl.1_Silent_p.I849I|SCN5A_uc021wvm.1_Silent_p.I849I|SCN5A_uc021wvn.1_Silent_p.I849I|SCN5A_uc021wvp.1_Silent_p.I849I|SCN5A_uc021wvq.1_Silent_p.I849I|SCN5A_uc021wvr.1_Silent_p.I849I|SCN5A_uc021wvs.1_Silent_p.I849I|SCN5A_uc021wvt.1_Silent_p.I849I|SCN5A_uc021wvu.1_Silent_p.I849I|SCN5A_uc021wvv.1_Silent_p.I849I|SCN5A_uc021wvj.1_Silent_p.I715I|SCN5A_uc021wvi.1_Silent_p.I715I|SCN5A_uc021wvw.1_Silent_p.I460I	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	849					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	AGATGAACACGATGATGGCTA	0.567000														61			35		0	0	1	0	0
TCR-_alpha_V_33.1	0	broad.mit.edu	37	14	22783200	22783200	+	Missense_Mutation	SNP	T	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:22783200T>A	uc001wdq.2	+	1	203	c.196T>A	c.(196-198)Tac>Aac	p.Y66N	TCRA_uc001wbw.2_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc001wdd.2_Intron|TCRA_uc010ajj.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajl.1_Intron|AV4S1_uc021rpv.1_Intron|TCRA_uc010ajo.1_Intron|TCRA_uc010ajp.1_Intron|TCRA_uc021rpw.1_Intron|TRAV38-2DV8_uc010tmr.2_Intron					Homo sapiens mRNA for T cell receptor alpha variable 40, partial cds, clone: un 107.																		GTATGTGGAATACCCCAGCAA	0.478000														47			29		0	0	1	0	0
FUT9	10690	broad.mit.edu	37	6	96651266	96651266	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:96651266C>T	uc003pop.4	+	2	576	c.235C>T	c.(235-237)Ctt>Ttt	p.L79F	FUT9_uc021zcw.1_Missense_Mutation_p.L79F	NM_006581	NP_006572	Q9Y231	FUT9_HUMAN	Homo sapiens fucosyltransferase 9 (alpha (1,3) fucosyltransferase) (FUT9), mRNA.	79					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		GACCTTTGACCTTACATCCTG	0.433000														23			30		0	0	1	0	0
POLR3B	55703	broad.mit.edu	37	12	106821067	106821067	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:106821067C>T	uc001tlp.3	+	12	1416	c.1194C>T	c.(1192-1194)gcC>gcT	p.A398A	POLR3B_uc001tlq.3_Silent_p.A340A	NM_018082	NP_001154180	Q9NW08	RPC2_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide B (POLR3B), transcript variant 1, mRNA.	398					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						AAAGAGCAGCCCAGTTTGATG	0.373000														57			35		0	0	1	0	0
SERPINA10	51156	broad.mit.edu	37	14	94756232	94756232	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:94756232C>T	uc001yct.3	-	1	1165	c.699G>A	c.(697-699)gtG>gtA	p.V233V	SERPINA10_uc001ycu.4_Silent_p.V233V	NM_016186	NP_057270	Q9UK55	ZPI_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 (SERPINA10), transcript variant 1, mRNA.	233					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		AGATGTAATCCACAAGAATTA	0.413000														45			17		0	0	1	0	0
ACSS1	84532	broad.mit.edu	37	20	24988464	24988464	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr20:24988464G>A	uc002wub.3	-	13	2084	c.2004C>T	c.(2002-2004)ccC>ccT	p.P668P	ACSS1_uc002wuc.3_Silent_p.P666P|ACSS1_uc021wbm.1_Intron|ACSS1_uc010gdc.3_Silent_p.P463P|ACSS1_uc002wua.3_Silent_p.P585P|ACSS1_uc021wbl.1_Silent_p.P547P|ACSS1_uc002wud.1_Non-coding_Transcript	NM_032501	NP_115890	Q9NUB1	ACS2L_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 1 (ACSS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	668					acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	AMP binding|ATP binding|acetate-CoA ligase activity|protein binding	p.D667D(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CGATGATGCTGGGGTCCTCCA	0.582000														74			43		0	0	1	0	0
OR11L1	391189	broad.mit.edu	37	1	248004713	248004713	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:248004713C>T	uc001idn.1	-	0	486	c.486G>A	c.(484-486)atG>atA	p.M162I		NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily L, member 1 (OR11L1), mRNA.	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M162I(2)|p.L161P(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			ACCTGGAAATCATCAGGGAAG	0.557000														73			37		0	0	1	0	0
RPP30	10556	broad.mit.edu	37	10	92654570	92654570	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:92654570C>T	uc001khd.2	+	6	741	c.471C>T	c.(469-471)agC>agT	p.S157S	RPP30_uc010qnj.2_Silent_p.S157S|RPP30_uc009xtx.3_Silent_p.S157S	NM_001104546	NP_001098016	P78346	RPP30_HUMAN	Homo sapiens ribonuclease P/MRP 30kDa subunit (RPP30), transcript variant 1, mRNA.	157					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	8						TTGTCTATAGCCCTGCTATCA	0.413000														76			36		0	0	1	0	0
OR2A12	346525	broad.mit.edu	37	7	143792528	143792528	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:143792528G>A	uc011kty.2	+	0	328	c.328G>A	c.(328-330)Gag>Aag	p.E110K		NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 12 (OR2A12), mRNA.	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					TGCTATTACAGAGTGTCTGAT	0.423000														133			30		0	0	1	0	0
DLEC1	9940	broad.mit.edu	37	3	38141900	38141900	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:38141900G>A	uc003chp.1	+	18	2869	c.2848G>A	c.(2848-2850)Gaa>Aaa	p.E950K	DLEC1_uc003cho.1_Missense_Mutation_p.E950K|DLEC1_uc010hgv.1_Missense_Mutation_p.E950K|DLEC1_uc003chr.1_Missense_Mutation_p.E56K|DLEC1_uc010hgx.1_Non-coding_Transcript	NM_007337	NP_031363	Q9Y238	DLEC1_HUMAN	Homo sapiens deleted in lung and esophageal cancer 1 (DLEC1), transcript variant DLEC1-S3, mRNA.	950					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		GCTGGAGGTGGAAAATGGTGC	0.502000														56			24		0	0	1	0	0
GABRG1	2565	broad.mit.edu	37	4	46066470	46066470	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:46066470C>T	uc003gxb.3	-	4	765	c.613G>A	c.(613-615)Gaa>Aaa	p.E205K		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 1 (GABRG1), mRNA.	205					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		CTTGAAAATTCCAGTGGACAG	0.274000														68			37		0	0	1	0	0
PDP2	57546	broad.mit.edu	37	16	66918732	66918732	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:66918732C>T	uc021tjw.1	+	0	545	c.545C>T	c.(544-546)cCc>cTc	p.P182L	PDP2_uc002eqk.2_Missense_Mutation_p.P182L	NM_020786	NP_065837	Q9P2J9	PDP2_HUMAN	Homo sapiens pyruvate dehyrogenase phosphatase catalytic subunit 2 (PDP2), mRNA.	182					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		AGCATGAAACCCTTGCTGCCC	0.547000														31			20		0	0	1	0	0
KRT32	3882	broad.mit.edu	37	17	39623286	39623286	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:39623286C>T	uc002hwr.3	-	0	353	c.292G>A	c.(292-294)Gaa>Aaa	p.E98K		NM_002278	NP_002269	Q14532	K1H2_HUMAN	Homo sapiens keratin 32 (KRT32), mRNA.	98	Coil 1A.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				TGCATGGTTTCCTTCTCATTG	0.607000														64			39		0	0	1	0	0
MSRB1	51734	broad.mit.edu	37	16	1991306	1991306	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:1991306G>A	uc021tam.1	-	1	293	c.156C>T	c.(154-156)gcC>gcT	p.A52A	TCRBV20S1_uc021tak.1_Intron	NM_016332	NP_057416	Q9NZV6	MSRB1_HUMAN	Homo sapiens selenoprotein X, 1 (SEPX1), mRNA.	52					protein repair	cytoplasm|nucleus	peptide-methionine-(S)-S-oxide reductase activity|zinc ion binding									L-Methionine(DB00134)	CCACGCTGTCGGCGTGAATGG	0.622000														30			26		0	0	1	0	0
CNOT1	23019	broad.mit.edu	37	16	58619371	58619371	+	Missense_Mutation	SNP	A	G	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:58619371A>G	uc002env.3	-	7	970	c.677T>C	c.(676-678)cTt>cCt	p.L226P	CNOT1_uc002enw.3_Non-coding_Transcript|CNOT1_uc002enu.4_Missense_Mutation_p.L226P|CNOT1_uc002enx.3_Missense_Mutation_p.L226P|CNOT1_uc002enz.1_Intron	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 1 (CNOT1), transcript variant 1, mRNA.	226					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		AGGGTATAAAAGTGGTGCGAG	0.443000														26			17		0	0	1	0	0
NCOR2	9612	broad.mit.edu	37	12	124914223	124914223	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:124914223G>A	uc021rga.1	-	9	1202	c.1085C>T	c.(1084-1086)tCc>tTc	p.S362F	NCOR2_uc021rgb.1_Missense_Mutation_p.S362F|NCOR2_uc010tbb.2_Missense_Mutation_p.S362F|NCOR2_uc010tbc.2_Missense_Mutation_p.S361F|NCOR2_uc021rgc.1_Missense_Mutation_p.S361F|NCOR2_uc010tba.2_Missense_Mutation_p.S362F|NCOR2_uc001ugj.1_Missense_Mutation_p.S362F|NCOR2_uc001ugk.1_Missense_Mutation_p.S362F	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.	362					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|Notch binding|histone deacetylase binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GGCCGACATGGACAGCCCACT	0.662000														12			4		0	0	1	0	0
GHR	2690	broad.mit.edu	37	5	42711356	42711356	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:42711356G>A	uc021xxv.1	+	6	824	c.687G>A	c.(685-687)gtG>gtA	p.V229V	GHR_uc003jmt.3_Silent_p.V222V|GHR_uc003jmu.3_Silent_p.V222V|GHR_uc003jmv.2_Silent_p.V222V|GHR_uc021xxw.1_Silent_p.V222V|GHR_uc021xxx.1_Silent_p.V222V|GHR_uc021xxy.1_Silent_p.V222V|GHR_uc021xxz.1_Silent_p.V222V|GHR_uc021xya.1_Silent_p.V222V|GHR_uc021xyb.1_Silent_p.V222V|GHR_uc021xyc.1_Silent_p.V222V|GHR_uc011cpq.2_Silent_p.V35V|GHR_uc021xyd.1_Silent_p.V200V	NM_001242399	NP_001229328	P10912	GHR_HUMAN	Homo sapiens growth hormone receptor (GHR), transcript variant 2, mRNA.	222	Fibronectin type-III.		R -> G (in LARS).|R -> H (found in a patient with idiopathic short stature; unknown pathological significance; dbSNP:rs6177).		2-oxoglutarate metabolic process|JAK-STAT cascade|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding	p.V222V(1)		NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	CATTGAAAGTGGATAAGGAAT	0.408000														82			50		0	0	1	0	0
DOCK2	1794	broad.mit.edu	37	5	169081470	169081470	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:169081470G>A	uc003maf.3	+	1	187	c.107G>A	c.(106-108)cGa>cAa	p.R36Q	DOCK2_uc011der.2_Non-coding_Transcript	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	36	SH3.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	GTP binding|GTPase binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding|electron carrier activity|heme binding	p.R36Q(2)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GATGTGGTGCGAATACAGGAG	0.582000														36			19		0	0	1	0	0
TRPM3	80036	broad.mit.edu	37	9	73151674	73151674	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:73151674G>A	uc004aid.3	-	24	4563	c.4319C>T	c.(4318-4320)cCt>cTt	p.P1440L	TRPM3_uc004ahu.3_Missense_Mutation_p.P1282L|TRPM3_uc004ahv.3_Missense_Mutation_p.P1242L|TRPM3_uc004ahw.3_Missense_Mutation_p.P1312L|TRPM3_uc004ahx.3_Missense_Mutation_p.P1299L|TRPM3_uc004ahy.3_Missense_Mutation_p.P1302L|TRPM3_uc004ahz.3_Missense_Mutation_p.P1289L|TRPM3_uc004aia.3_Missense_Mutation_p.P1287L|TRPM3_uc004aib.3_Missense_Mutation_p.P1277L|TRPM3_uc004aic.3_Intron	NM_001007471	NP_066003	Q9HCF6	TRPM3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 3 (TRPM3), transcript variant 9, mRNA.	1465						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						ACTACTTGAAGGGGCTGTGGA	0.502000														53			27		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21147717	21147718	+	Silent	DNP	GG	AA	AA			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:21147717_21147718GG>AA	uc010vbe.2	-	5	813_814	c.813_814CC>TT	c.(811-816)ttcctg>ttTTtg	p.271_272FL>FL	DNAH3_uc002die.2_Silent_p.242_243FL>FL	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	271	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AGGGGCTCCAGGAAGGGACTCG	0.515000														84			38		0	0	1	0	0
DBN1	1627	broad.mit.edu	37	5	176885177	176885177	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:176885177G>A	uc003mgx.2	-	12	1946	c.1664C>T	c.(1663-1665)tCc>tTc	p.S555F	DBN1_uc011dga.1_Missense_Mutation_p.S285F|DBN1_uc003mgy.2_Missense_Mutation_p.S553F|DBN1_uc010jkn.1_Missense_Mutation_p.S503F|DBN1_uc003mgz.1_Missense_Mutation_p.S536F	NM_080881	NP_543157	Q16643	DREB_HUMAN	Homo sapiens drebrin 1 (DBN1), transcript variant 2, mRNA.	553					actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity	actomyosin|cytoplasm|dendrite	actin binding|profilin binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGCAGCCAGGGACTCCCCTTC	0.642000														29			22		0	0	1	0	0
HSPA4L	22824	broad.mit.edu	37	4	128732767	128732767	+	Silent	SNP	T	C	C			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:128732767T>C	uc003ifm.3	+	11	1807	c.1554T>C	c.(1552-1554)ttT>ttC	p.F518F	HSPA4L_uc010iny.1_Silent_p.F477F|HSPA4L_uc011cgr.2_Silent_p.F485F	NM_014278	NP_055093	O95757	HS74L_HUMAN	Homo sapiens heat shock 70kDa protein 4-like (HSPA4L), mRNA.	518					protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						AAACTTCATTTAAAAATGAAA	0.338000														21			12		0	0	1	0	0
ZNF793	390927	broad.mit.edu	37	19	38028704	38028704	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:38028704C>T	uc010efm.3	+	7	1586	c.1144C>T	c.(1144-1146)Ctc>Ttc	p.L382F	ZNF793_uc010xts.2_Missense_Mutation_p.L382F	NM_001013659	NP_001013681	Q6ZN11	ZN793_HUMAN	Homo sapiens zinc finger protein 793 (ZNF793), mRNA.	203					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(2)|lung(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GAAGCCAAACCTCAGCAGACA	0.418000														22			6		0	0	1	0	0
RB1CC1	9821	broad.mit.edu	37	8	53573162	53573162	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:53573162G>A	uc003xre.4	-	11	2241	c.1683C>T	c.(1681-1683)tcC>tcT	p.S561S	RB1CC1_uc003xrf.4_Silent_p.S561S	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN	Homo sapiens RB1-inducible coiled-coil 1 (RB1CC1), transcript variant 1, mRNA.	561					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ULK1-ATG13-FIP200 complex|cytosol|nucleus|pre-autophagosomal structure	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				ATACACAAAAGGAAGGGGGCC	0.318000														51			13		0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56329471	56329471	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:56329471G>A	uc010ygf.2	-	3	781	c.70C>T	c.(70-72)Cag>Tag	p.Q24*	NLRP11_uc002qmb.3_Intron|NLRP11_uc002qmc.3_Intron|NLRP11_uc010ete.1_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	24	DAPIN.						ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		TTAAAACTCTGAAATTCCTTG	0.438000														31			18		0	0	1	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41000860	41000860	+	Missense_Mutation	SNP	T	G	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:41000860T>G	uc003jmj.4	-	37	4760	c.4270A>C	c.(4270-4272)Att>Ctt	p.I1424L	HEATR7B2_uc003jmi.4_Missense_Mutation_p.I979L	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	1424				I -> T (in Ref. 1; CAH18199 and 5; AAP97306).			binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						GCAAAAAAAATCTTCCACCTT	0.458000														5			3		0	0	1	0	0
C1orf116	79098	broad.mit.edu	37	1	207195977	207195977	+	Missense_Mutation	SNP	C	T	T	rs149585923		TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:207195977C>T	uc001hfd.2	-	3	1391	c.1132G>A	c.(1132-1134)Gag>Aag	p.E378K	C1orf116_uc009xcb.1_Missense_Mutation_p.E132K|C1orf116_uc021pii.1_Missense_Mutation_p.E132K	NM_023938	NP_001077393	Q9BW04	SARG_HUMAN	Homo sapiens chromosome 1 open reading frame 116 (C1orf116), transcript variant 1, mRNA.	378						cytoplasm|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					GCCCGTGTCTCCTTGGGTCTG	0.592000														50			22		0	0	1	0	0
KCNJ3	3760	broad.mit.edu	37	2	155555383	155555383	+	Missense_Mutation	SNP	C	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:155555383C>A	uc002tyv.1	+	0	291	c.96C>A	c.(94-96)gaC>gaA	p.D32E	KCNJ3_uc010zce.1_Missense_Mutation_p.D32E|KCNJ3_uc021vrh.1_Missense_Mutation_p.D32E	NM_002239	NP_002230	P48549	IRK3_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 3 (KCNJ3), mRNA.	32					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	p.Q31L(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	CAGGCCAGGACCCTCAGCAGC	0.602000														35			7		8.12818e-05	8.15583e-05	1	1	0
EMB	133418	broad.mit.edu	37	5	49699150	49699150	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:49699150C>T	uc003jom.3	-	5	988	c.739G>A	c.(739-741)Gaa>Aaa	p.E247K	EMB_uc010ivq.3_Missense_Mutation_p.E41K|EMB_uc003jol.3_Missense_Mutation_p.E178K|EMB_uc011cpy.2_Missense_Mutation_p.E197K	NM_198449	NP_940851	Q6PCB8	EMB_HUMAN	Homo sapiens embigin (EMB), mRNA.	247	Ig-like V-type 2.					integral to membrane				breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				ATGTGTTCTTCACTCTCGCCT	0.443000														55			22		0	0	1	0	0
SAMD13	148418	broad.mit.edu	37	1	84768944	84768944	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:84768944G>A	uc001djr.3	+	1	261	c.69G>A	c.(67-69)aaG>aaA	p.K23K	SAMD13_uc010orw.2_Silent_p.K9K|SAMD13_uc010orx.2_Silent_p.K9K	NM_001010971	NP_001128136	Q5VXD3	SAM13_HUMAN	Homo sapiens sterile alpha motif domain containing 13 (SAMD13), transcript variant 1, mRNA.	29										lung(4)	4				all cancers(265;0.00667)|Epithelial(280;0.0219)|OV - Ovarian serous cystadenocarcinoma(397;0.136)		TGGAAAACAAGGAAAATGGCT	0.398000														16			10		0	0	1	0	0
C9	735	broad.mit.edu	37	5	39288904	39288904	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:39288904C>T	uc003jlv.4	-	9	1655	c.1566G>A	c.(1564-1566)atG>atA	p.M522I		NM_001737	NP_001728	P02748	CO9_HUMAN	Homo sapiens complement component 9 (C9), mRNA.	522	EGF-like.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			ACTTTCCATCCATTAGAATCA	0.353000														75			45		0	0	1	0	0
PARP16	54956	broad.mit.edu	37	15	65551759	65551759	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:65551759G>A	uc002aoq.3	-	5	1212	c.958C>T	c.(958-960)Cgt>Tgt	p.R320C	PARP16_uc002aoo.3_Missense_Mutation_p.R319C|PARP16_uc002aop.3_Missense_Mutation_p.R204C	NM_017851	NP_060321	Q8N5Y8	PAR16_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 16 (PARP16), mRNA.	319						integral to membrane	NAD+ ADP-ribosyltransferase activity			kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						CTTTTCGCACGATTCCAAAAG	0.478000														130			63		0	0	1	0	0
OR6C4	341418	broad.mit.edu	37	12	55945843	55945843	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:55945843C>T	uc010spp.2	+	0	833	c.833C>T	c.(832-834)tCg>tTg	p.S278L		NM_001005494	NP_001005494	Q8NGE1	OR6C4_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 4 (OR6C4), mRNA.	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						CTCATTACTTCGGTTACTCCC	0.368000														33			27		0	0	1	0	0
DSC2	1824	broad.mit.edu	37	18	28671063	28671063	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr18:28671063C>T	uc002kwl.4	-	3	856	c.402G>A	c.(400-402)aaG>aaA	p.K134K	DSC2_uc002kwk.4_Silent_p.K134K	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	134					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			CCCATCTTCTCTTGGCGCGCC	0.388000														16			24		0	0	1	0	0
C17orf49	124944	broad.mit.edu	37	17	6920628	6920628	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:6920628C>T	uc002ged.3	+	5	1280	c.567C>T	c.(565-567)ctC>ctT	p.L189L	C17orf49_uc002gec.3_3'UTR|C17orf49_uc010vti.2_3'UTR|MIR497HG_uc021tox.1_Non-coding_Transcript	NM_001142798	NP_001136270	Q8IXM2	BAP18_HUMAN	Homo sapiens chromosome 17 open reading frame 49 (C17orf49), transcript variant 1, mRNA.	0					chromatin modification	MLL1 complex|NURF complex	DNA binding			kidney(1)|large_intestine(2)|ovary(1)	4						ATCCTCCTCTCCTCTCCTGCT	0.587000														68			27		0	0	1	0	0
GABRR1	2569	broad.mit.edu	37	6	89888625	89888625	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:89888625G>A	uc003pna.2	-	9	1759	c.1304C>T	c.(1303-1305)tCc>tTc	p.S435F	GABRR1_uc011dzv.1_Missense_Mutation_p.S412F	NM_002042	NP_002033	P24046	GBRR1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) receptor, rho 1 (GABRR1), mRNA.	435					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	CCTCTGTGGGGAGCTCCTCTC	0.512000														34			49		0	0	1	0	0
GAB4	128954	broad.mit.edu	37	22	17444633	17444633	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr22:17444633C>T	uc002zlw.3	-	8	1671	c.1563G>A	c.(1561-1563)ctG>ctA	p.L521L		NM_001037814	NP_001032903	Q2WGN9	GAB4_HUMAN	Homo sapiens GRB2-associated binding protein family, member 4 (GAB4), mRNA.	521								p.L521M(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				GCTGGAAGTCCAGGGCCGCGT	0.657000														34			5		0	0	1	0	0
ASB5	140458	broad.mit.edu	37	4	177143536	177143536	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:177143536G>A	uc003iuq.2	-	2	426	c.312C>T	c.(310-312)gtC>gtT	p.V104V	ASB5_uc003iup.2_Silent_p.V51V	NM_080874	NP_543150	Q8WWX0	ASB5_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 5 (ASB5), mRNA.	104					intracellular signal transduction					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		GCAATGGGGTGACATGGTCTA	0.388000														52			38		0	0	1	0	0
THRB	7068	broad.mit.edu	37	3	24231681	24231681	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:24231681G>A	uc003ccz.4	-	5	687	c.167C>T	c.(166-168)cCa>cTa	p.P56L	THRB_uc010hfe.3_Missense_Mutation_p.P56L|THRB_uc003ccy.4_Missense_Mutation_p.P56L|THRB_uc003ccx.4_Missense_Mutation_p.P56L|THRB_uc003cdc.3_Missense_Mutation_p.P51L|THRB_uc003cdd.3_Missense_Mutation_p.P51L|THRB_uc003cde.1_Missense_Mutation_p.P51L|THRB_uc021wuc.1_Missense_Mutation_p.P51L	NM_001252634	NP_001239563	P10828	THB_HUMAN	Homo sapiens thyroid hormone receptor, beta (THRB), transcript variant 4, mRNA.	56	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Levothyroxine(DB00451)|Liothyronine(DB00279)	GATGAGATGTGGCGACGACTG	0.502000														58			30		0	0	1	0	0
CCDC59	29080	broad.mit.edu	37	12	82750862	82750862	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:82750862G>A	uc001szp.4	-	1	385	c.341C>T	c.(340-342)cCt>cTt	p.P114L	C12orf26_uc001szq.3_5'Flank|CCDC59_uc021rbm.1_Non-coding_Transcript	NM_014167	NP_054886	Q9P031	TAP26_HUMAN	Homo sapiens coiled-coil domain containing 59 (CCDC59), transcript variant 1, mRNA.	114					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)	5						TTCTGACAAAGGATGGTCGAC	0.428000														88			44		0	0	1	0	0
SLC44A5	204962	broad.mit.edu	37	1	75704305	75704305	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:75704305G>A	uc010oqz.1	-	8	732	c.666C>T	c.(664-666)ttC>ttT	p.F222F	SLC44A5_uc001dgt.2_Silent_p.F183F|SLC44A5_uc001dgs.2_Silent_p.F141F|SLC44A5_uc001dgr.2_Silent_p.F141F|SLC44A5_uc001dgu.3_Silent_p.F183F|SLC44A5_uc010ora.2_Silent_p.F177F|SLC44A5_uc010orb.2_Silent_p.F53F	NM_001130058	NP_001123530	Q8NCS7	CTL5_HUMAN	Homo sapiens solute carrier family 44, member 5 (SLC44A5), transcript variant 2, mRNA.	183						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						AGAAGTCAGGGAAACATCTCT	0.333000														37			13		0	0	1	0	0
SYK	6850	broad.mit.edu	37	9	93650053	93650053	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:93650053C>T	uc004aqz.3	+	11	1809	c.1604C>T	c.(1603-1605)cCt>cTt	p.P535L	SYK_uc004ara.3_Missense_Mutation_p.P512L|SYK_uc004arb.3_Missense_Mutation_p.P512L|SYK_uc004arc.3_Missense_Mutation_p.P535L|SYK_uc011ltt.2_Non-coding_Transcript|SYK_uc011ltr.2_Non-coding_Transcript|SYK_uc011lts.2_Non-coding_Transcript	NM_003177	NP_003168	P43405	KSYK_HUMAN	Homo sapiens spleen tyrosine kinase (SYK), transcript variant 1, mRNA.	535	Protein kinase.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	T cell receptor complex|cytosol	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						GGAAAGTGGCCTGTCAAGTGG	0.478000			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""									42			55		0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16860627	16860627	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:16860627C>T	uc002neu.4	+	5	1596	c.1174C>T	c.(1174-1176)Cag>Tag	p.Q392*	NWD1_uc002net.4_Nonsense_Mutation_p.Q257*|NWD1_uc002nev.4_Nonsense_Mutation_p.Q186*|NWD1_uc021uqg.1_Nonsense_Mutation_p.Q257*	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	392	NACHT.						ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CATCTGCTTCCAGGTGTGCCT	0.627000														27			10		0	0	1	0	0
SYT4	6860	broad.mit.edu	37	18	40853703	40853703	+	Missense_Mutation	SNP	T	G	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr18:40853703T>G	uc002law.3	-	1	1060	c.691A>C	c.(691-693)Acc>Ccc	p.T231P	SYT4_uc010dng.3_Intron|SYT4_uc010xcm.2_Missense_Mutation_p.T213P	NM_020783	NP_065834	Q9H2B2	SYT4_HUMAN	Homo sapiens synaptotagmin IV (SYT4), mRNA.	231	C2 1.|Phospholipid binding (Probable).					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						TGGATTTGGGTGTAGGGTATC	0.408000														78			21		0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170151151	170151151	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:170151151C>T	uc002ues.3	-	4	710	c.497G>A	c.(496-498)tGg>tAg	p.W166*	LRP2_uc010zdf.1_Nonsense_Mutation_p.W166*	NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	166	LDL-receptor class A 4.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ATCAACTTTCCAATCACACTT	0.393000														40			22		0	0	1	0	0
GPR114	221188	broad.mit.edu	37	16	57597819	57597819	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:57597819G>A	uc002ely.3	+	4	880	c.357G>A	c.(355-357)cgG>cgA	p.R119R	GPR114_uc002elx.4_Silent_p.R119R|GPR114_uc010vhr.2_Silent_p.R119R	NM_153837	NP_722579	Q8IZF4	GP114_HUMAN	Homo sapiens G protein-coupled receptor 114 (GPR114), mRNA.	119					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						AGCTGACCCGGGACGCCTGCA	0.627000														32			27		0	0	1	0	0
MYRIP	25924	broad.mit.edu	37	3	40251489	40251489	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:40251489G>A	uc003cka.3	+	10	1945	c.1810G>A	c.(1810-1812)Gat>Aat	p.D604N	MYRIP_uc010hhu.3_Non-coding_Transcript|MYRIP_uc010hhv.3_Missense_Mutation_p.D604N|MYRIP_uc010hhw.3_Missense_Mutation_p.D515N|MYRIP_uc011ayz.2_Missense_Mutation_p.D417N|FLJ33065_uc003ckb.3_Intron	NM_015460	NP_056275	Q8NFW9	MYRIP_HUMAN	Homo sapiens myosin VIIA and Rab interacting protein (MYRIP), mRNA.	604	Actin-binding.				intracellular protein transport		actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		TTCAGGGGAGGATCAGGAGTC	0.493000														29			12		0	0	1	0	0
TLR7	51284	broad.mit.edu	37	X	12904243	12904243	+	Silent	SNP	T	C	C			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:12904243T>C	uc004cvc.3	+	2	755	c.616T>C	c.(616-618)Tta>Cta	p.L206L		NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN	Homo sapiens toll-like receptor 7 (TLR7), mRNA.	206					I-kappaB phosphorylation|cellular response to mechanical stimulus|defense response to virus|inflammatory response|innate immune response|positive regulation of NF-kappaB import into nucleus|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|siRNA binding|single-stranded RNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	CTTGACAAAGTTAAAAGTGCT	0.358000														10			18		0	0	1	0	0
SLFN5	162394	broad.mit.edu	37	17	33591399	33591399	+	Missense_Mutation	SNP	C	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:33591399C>A	uc002hjf.4	+	3	1453	c.1336C>A	c.(1336-1338)Cag>Aag	p.Q446K	SLFN5_uc010wcg.2_Intron	NM_144975	NP_659412	Q08AF3	SLFN5_HUMAN	Homo sapiens schlafen family member 5 (SLFN5), mRNA.	446					cell differentiation		ATP binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		TCTAATTTCCCAGAACAACAC	0.453000														46			22		2.4375e-19	2.47465e-19	1	1	0
GPR111	222611	broad.mit.edu	37	6	47646828	47646828	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:47646828C>T	uc010jzj.1	+	3	430	c.429C>T	c.(427-429)atC>atT	p.I143I	GPR111_uc003oyy.3_Silent_p.I75I	NM_153839	NP_722581	Q8IZF7	GP111_HUMAN	Homo sapiens G protein-coupled receptor 111 (GPR111), mRNA.	143					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						GGCACAAGATCACTGACACCT	0.443000														42			57		0	0	1	0	0
CUL9	23113	broad.mit.edu	37	6	43154182	43154182	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:43154182C>T	uc003ouk.3	+	3	1315	c.1240C>T	c.(1240-1242)Ccc>Tcc	p.P414S	CUL9_uc003ouj.1_Missense_Mutation_p.P414S|CUL9_uc003oul.3_Missense_Mutation_p.P414S|CUL9_uc010jyk.3_5'UTR|CUL9_uc003oum.1_5'Flank	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	Homo sapiens cullin 9 (CUL9), mRNA.	414					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CAACGGCATTCCCCCTGTGCA	0.587000														87			23		0	0	1	0	0
APLNR	187	broad.mit.edu	37	11	57003606	57003606	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:57003606G>A	uc001njo.3	-	0	1322	c.873C>T	c.(871-873)ttC>ttT	p.F291F	APLNR_uc001njn.4_Non-coding_Transcript	NM_005161	NP_005152	P35414	APJ_HUMAN	Homo sapiens apelin receptor (APLNR), transcript variant 1, mRNA.	291						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						TGCAGTAGGGGAAGATGTTCA	0.587000														18			16		0	0	1	0	0
LRMP	4033	broad.mit.edu	37	12	25254170	25254170	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:25254170G>A	uc001rgh.3	+	14	1894	c.800G>A	c.(799-801)aGg>aAg	p.R267K	LRMP_uc010sja.2_Missense_Mutation_p.R267K|LRMP_uc010sjc.2_Missense_Mutation_p.R267K|LRMP_uc001rgi.3_Non-coding_Transcript|LRMP_uc010sjb.2_Missense_Mutation_p.R214K|LRMP_uc010sjd.2_Missense_Mutation_p.R214K	NM_006152	NP_006143	Q12912	LRMP_HUMAN	Homo sapiens lymphoid-restricted membrane protein (LRMP), transcript variant 1, mRNA.	323					vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					AACTTGAAGAGGATGTATGCC	0.378000														42			30		0	0	1	0	0
CLCNKA	1187	broad.mit.edu	37	1	16377026	16377026	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:16377026C>T	uc001axx.4	+	10	1120	c.984C>T	c.(982-984)tcC>tcT	p.S328S	CLCNKA_uc021ogl.1_Intron|CLCNKA_uc021ogm.1_Silent_p.S159S|CLCNKA_uc001axy.4_Silent_p.S159S	NM_000085	NP_000076	P51800	CLCKA_HUMAN	Homo sapiens chloride channel Kb (CLCNKB), transcript variant 1, mRNA.	328					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	CTGTGTACTCCGCTCTGGCCA	0.647000														91			42		0	0	1	0	0
GNL3	26354	broad.mit.edu	37	3	52721287	52721287	+	Missense_Mutation	SNP	G	T	T	rs147047392		TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:52721287G>T	uc003dfd.3	+	2	271	c.98G>T	c.(97-99)aGa>aTa	p.R33I	PBRM1_uc003dey.2_5'Flank|GNL3_uc011beh.1_Non-coding_Transcript|GNL3_uc003dfe.3_Missense_Mutation_p.R21I|GNL3_uc003dff.3_Missense_Mutation_p.R21I|SNORD19_uc003dfg.1_5'Flank	NM_014366	NP_996562	Q9BVP2	GNL3_HUMAN	Homo sapiens guanine nucleotide binding protein-like 3 (nucleolar) (GNL3), transcript variant 1, mRNA.	33	Basic (By similarity).				regulation of cell proliferation	nucleolus	GTP binding|protein binding			breast(4)|endometrium(3)|large_intestine(3)|lung(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048)		CGAAAATTAAGAAAGGAGGCT	0.388000														13			11		4.68919e-08	4.7235e-08	1	1	0
F10	2159	broad.mit.edu	37	13	113803231	113803231	+	Splice_Site	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr13:113803231G>A	uc001vsx.3	+	8	923	c.866_splice	c.e8-1	p.G289_splice	F10_uc001vsy.3_Splice_Site_p.G286_splice	NM_000504	NP_000495	P00742	FA10_HUMAN	Homo sapiens coagulation factor X (F10), mRNA.	289	Peptidase S1.		G -> R (in FA10D; may affect splicing).		blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|extracellular region	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTGTCCCAGGGGACCGGAACA	0.517000														107			79		0	0	1	0	0
MRGPRX2	117194	broad.mit.edu	37	11	19077817	19077817	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:19077817G>A	uc001mph.3	-	1	221	c.133C>T	c.(133-135)Ctg>Ttg	p.L45L	MRGPRX2_uc021qer.1_Silent_p.L45L	NM_054030	NP_473371	Q96LB1	MRGX2_HUMAN	Homo sapiens MAS-related GPR, member X2 (MRGPRX2), mRNA.	45					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						TTTCCTACCAGCCCGACCAGG	0.567000														63			54		0	0	1	0	0
PMS2	5395	broad.mit.edu	37	7	6043355	6043355	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:6043355G>A	uc003spl.3	-	3	406	c.319C>T	c.(319-321)Cgg>Tgg	p.R107W	PMS2_uc003spj.3_Intron|PMS2_uc003spk.3_5'UTR|PMS2_uc011jwl.2_5'UTR|PMS2_uc010ktg.3_5'UTR|PMS2_uc010kte.3_Missense_Mutation_p.R107W|PMS2_uc010ktf.2_Missense_Mutation_p.R107W	NM_000535	NP_000526	P54278	PMS2_HUMAN	Homo sapiens PMS2 postmeiotic segregation increased 2 (S. cerevisiae) (PMS2), transcript variant 1, mRNA.	107					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		GCTTCCCCCCGAAAGCCAAAA	0.403000			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome					32			19		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179602908	179602908	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:179602908C>T	uc021vsy.1	-	45	10765	c.10540G>A	c.(10540-10542)Gaa>Aaa	p.E3514K	TTN_uc021vsz.1_Missense_Mutation_p.E4587K|TTN_uc021vta.1_Missense_Mutation_p.E4520K|TTN_uc021vtb.1_Missense_Mutation_p.E4395K|TTN_uc002umz.1_Missense_Mutation_p.E175K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	4441	Ig-like 21.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCAGGATTTCAAGGCTGGAG	0.468000														18			19		0	0	1	0	0
BAI1	575	broad.mit.edu	37	8	143603417	143603417	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:143603417C>T	uc003ywm.3	+	19	3299	c.3116C>T	c.(3115-3117)gCg>gTg	p.A1039V		NM_001702	NP_001693	O14514	BAI1_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 1 (BAI1), mRNA.	1039					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					TCCTACATGGCGGTGACGGGC	0.662000														26			7		0	0	1	0	0
OR4C15	81309	broad.mit.edu	37	11	55321881	55321881	+	Missense_Mutation	SNP	C	G	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:55321881C>G	uc010rig.2	+	0	99	c.99C>G	c.(97-99)ttC>ttG	p.F33L		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 15 (OR4C15), mRNA.	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						AGCAAATTTTCCTTTGTCCTA	0.368000										HNSCC(20;0.049)				80			31		0	0	1	0	0
CAMKV	79012	broad.mit.edu	37	3	49896855	49896855	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:49896855C>T	uc003cxt.1	-	10	1595	c.1402G>A	c.(1402-1404)Gac>Aac	p.D468N	TRAIP_uc003cxs.1_5'Flank|TRAIP_uc010hla.1_5'Flank|TRAIP_uc011bcx.2_5'Flank|CAMKV_uc011bcy.1_Missense_Mutation_p.D393N|CAMKV_uc003cxv.1_Missense_Mutation_p.D440N|CAMKV_uc003cxw.1_Missense_Mutation_p.D300N|CAMKV_uc003cxx.1_Missense_Mutation_p.D300N|CAMKV_uc003cxu.2_Missense_Mutation_p.D437N|CAMKV_uc011bcz.1_Missense_Mutation_p.D400N|CAMKV_uc011bda.1_Missense_Mutation_p.D394N	NM_024046	NP_076951	Q8NCB2	CAMKV_HUMAN	Homo sapiens CaM kinase-like vesicle-associated (CAMKV), mRNA.	468	Ala-rich.					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GCTGTGCTGTCCGGCTGGGCC	0.647000														37			25		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140729876	140729876	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:140729876C>T	uc003ljo.2	+	0	49	c.49C>T	c.(49-51)Ccc>Tcc	p.P17S	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc011daq.2_Missense_Mutation_p.P17S	NM_018922	NP_061745	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 1 (PCDHGB1), transcript variant 1, mRNA.	0					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTACTGTTTCCCTTCCTGCT	0.512000											OREG0016856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		20			6		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9047352	9047352	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:9047352C>T	uc002mkp.3	-	4	34483	c.34279G>A	c.(34279-34281)Ggt>Agt	p.G11427S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11429	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCTGGCTCACCAGAAGAAAGA	0.458000														61			26		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38798304	38798304	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:38798304C>T	uc003ciq.3	-	8	1151	c.1151G>A	c.(1150-1152)gGa>gAa	p.G384E		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	384					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GTAGAAAGATCCCAGGAAGAT	0.453000														72			40		0	0	1	0	0
LOC645166	645166	broad.mit.edu	37	1	148932823	148932823	+	RNA	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:148932823C>T	uc010pbc.1	+	1		c.138C>T			LOC645166_uc010pbd.1_Non-coding_Transcript|LOC645166_uc009wkw.1_Non-coding_Transcript					Homo sapiens lymphocyte-specific protein 1 pseudogene (LOC645166), transcript variant 2, non-coding RNA.																		CGCCAGGCCTCCATAGAGCTG	0.597000														163			13		0	0	1	0	0
ACAP3	116983	broad.mit.edu	37	1	1231121	1231121	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:1231121G>A	uc001aeb.2	-	17	1774	c.1700C>T	c.(1699-1701)tCc>tTc	p.S567F	ACAP3_uc001ady.2_Missense_Mutation_p.S297F|ACAP3_uc001aea.2_Missense_Mutation_p.S525F	NM_030649	NP_085152	Q96P50	ACAP3_HUMAN	Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 (ACAP3), mRNA.	567					filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity|zinc ion binding			endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						CCCACCTGAGGACAGAGCGGC	0.716000														8			6		0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100345948	100345948	+	Splice_Site	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:100345948G>A	uc003uwj.3	+	11	1268	c.1103_splice	c.e11-1	p.E368_splice	ZAN_uc003uwk.3_Splice_Site_p.E368_splice|ZAN_uc003uwl.3_Splice_Site|ZAN_uc010lhh.3_Splice_Site|ZAN_uc010lhi.3_Splice_Site	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	368	MAM 2.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ATCCCCCAGAGGGTTTTCCTC	0.567000														46			23		0	0	1	0	0
INTS5	80789	broad.mit.edu	37	11	62415655	62415655	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:62415655G>A	uc001nud.3	-	1	1950	c.1897C>T	c.(1897-1899)Ccc>Tcc	p.P633S	GANAB_uc001nua.3_5'Flank|GANAB_uc001nub.3_5'Flank|GANAB_uc001nuc.3_5'Flank|GANAB_uc010rma.2_5'Flank|GANAB_uc010rmb.2_5'Flank	NM_030628	NP_085131	Q6P9B9	INT5_HUMAN	Homo sapiens integrator complex subunit 5 (INTS5), mRNA.	633					snRNA processing	integral to membrane|integrator complex	protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						GAAGGAAAGGGACAAATGGCC	0.597000														25			11		0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37419171	37419171	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:37419171G>A	uc021ppc.1	+	2	306	c.207G>A	c.(205-207)ctG>ctA	p.L69L	ANKRD30A_uc001iza.1_Silent_p.L69L	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	125						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CAAATATTCTGATAGATTCTG	0.348000														53			23		0	0	1	0	0
OR13D1	286365	broad.mit.edu	37	9	107457492	107457492	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:107457492G>A	uc011lvs.2	+	0	790	c.790G>A	c.(790-792)Gag>Aag	p.E264K		NM_001004484	NP_001004484	Q8NGV5	O13D1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily D, member 1 (OR13D1), mRNA.	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						TAATTGTGCTGAGGGAAGAAA	0.388000														21			34		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140165878	140165879	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:140165878_140165879GG>AA	uc003lhb.2	+	0	3_4	c.3_4GG>AA	c.(1-6)atggtg>atAAtg	p.1_2MV>IM	PCDHAC2_uc003lha.2_Missense_Mutation_p.1_2MV>IM|PCDHAC2_uc003lgz.3_Missense_Mutation_p.1_2MV>IM	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	0					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTTTGCAATGGTGTTTTCTAG	0.485000														91			37		0	0	1	0	0
C5orf42	65250	broad.mit.edu	37	5	37164402	37164402	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:37164402G>A	uc011cpa.1	-	36	7792	c.7561C>T	c.(7561-7563)Cct>Tct	p.P2521S	C5orf42_uc011coy.1_Missense_Mutation_p.P1021S|C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Missense_Mutation_p.P1596S	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA.	2521										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TCATCCAAAGGATGGGAACCA	0.294000														32			18		0	0	1	0	0
OR8U8	504189	broad.mit.edu	37	11	56143515	56143515	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:56143515G>A	uc001nit.2	+	0	416	c.416G>A	c.(415-417)gGa>gAa	p.G139E		NM_001013356	NP_001013374	P0C7N1	OR8U8_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily U, member 8 (OR8U8), mRNA.	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity										ATGACTCCAGGAATCTGCATT	0.443000														54			17		0	0	1	0	0
CNOT2	4848	broad.mit.edu	37	12	70735934	70735934	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:70735934G>A	uc001svv.3	+	11	1808	c.1226G>A	c.(1225-1227)cGa>cAa	p.R409Q	CNOT2_uc009zro.3_Missense_Mutation_p.R409Q|CNOT2_uc009zrp.3_Missense_Mutation_p.R389Q|CNOT2_uc009zrq.3_Missense_Mutation_p.R409Q|CNOT2_uc001svw.1_Missense_Mutation_p.R149Q	NM_014515	NP_055330	Q9NZN8	CNOT2_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 2 (CNOT2), transcript variant 2, mRNA.	409					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	RNA polymerase II transcription cofactor activity|protein binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			TCACCTTGTCGACCTCAAGAC	0.328000														74			33		0	0	1	0	0
BCAR1	9564	broad.mit.edu	37	16	75276718	75276718	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:75276718G>A	uc002fdv.3	-	1	429	c.283C>T	c.(283-285)Ccg>Tcg	p.P95S	BCAR1_uc010vna.2_Missense_Mutation_p.P93S|BCAR1_uc010cgu.3_Missense_Mutation_p.P95S|BCAR1_uc010vnb.2_Missense_Mutation_p.P141S|BCAR1_uc002fdw.3_Missense_Mutation_p.P95S|BCAR1_uc010vnc.2_Intron|BCAR1_uc010vnd.2_Missense_Mutation_p.P113S|BCAR1_uc002fdx.3_Missense_Mutation_p.P113S	NM_014567	NP_055382	P56945	BCAR1_HUMAN	Homo sapiens breast cancer anti-estrogen resistance 1 (BCAR1), transcript variant 6, mRNA.	95					B cell receptor signaling pathway|G-protein coupled receptor protein signaling pathway|T cell receptor signaling pathway|actin filament organization|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth	cytosol|focal adhesion|membrane fraction|ruffle	SH3 domain binding|protein kinase binding|protein phosphatase binding|signal transducer activity			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		TGGGAGGCCGGAGGCGCTGGG	0.677000														18			21		0	0	1	0	0
RASGRF2	5924	broad.mit.edu	37	5	80511759	80511759	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:80511759G>A	uc003kha.2	+	23	3469	c.3419G>A	c.(3418-3420)aGa>aAa	p.R1140K	RNU5E-1_uc011cto.1_Intron|RASGRF2_uc011ctn.2_Non-coding_Transcript	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 2 (RASGRF2), mRNA.	1140	Ras-GEF.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	Rho guanyl-nucleotide exchange factor activity|protein binding			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		AAAAATCTTAGAGAAACCCTT	0.259000														27			6		0	0	1	0	0
ZNF646	9726	broad.mit.edu	37	16	31090316	31090316	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:31090316C>T	uc002eap.3	+	1	2960	c.2671C>T	c.(2671-2673)Cct>Tct	p.P891S	ZNF646_uc021tgu.1_Missense_Mutation_p.P891S	NM_014699	NP_055514	O15015	ZN646_HUMAN	Homo sapiens zinc finger protein 646 (ZNF646), mRNA.	891					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						CATGATCTTCCCTGGGCGGGC	0.642000														20			17		0	0	1	0	0
FAIM2	23017	broad.mit.edu	37	12	50284496	50284496	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:50284496G>A	uc001rvj.2	-	6	680	c.495C>T	c.(493-495)ttC>ttT	p.F165F	FAIM2_uc001rvi.2_Silent_p.F119F	NM_012306	NP_036438	Q9BWQ8	FAIM2_HUMAN	Homo sapiens Fas apoptotic inhibitory molecule 2 (FAIM2), mRNA.	165					anti-apoptosis|apoptosis	cell junction|integral to membrane|postsynaptic membrane				endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|skin(2)	14						GGTTCCAGGGGAAATGCCTCC	0.592000														49			24		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2806826	2806826	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:2806826C>T	uc022aqr.1	-	67	10787	c.10397G>A	c.(10396-10398)aGg>aAg	p.R3466K	CSMD1_uc011kwj.2_Missense_Mutation_p.R2781K|CSMD1_uc010lrg.3_Missense_Mutation_p.R1358K	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	3467						integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTTACCTTGCCTTTCTAGCTT	0.343000														9			12		0	0	1	0	0
HMG20A	10363	broad.mit.edu	37	15	77769936	77769936	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:77769936C>T	uc002bcr.3	+	7	856	c.655C>T	c.(655-657)Cct>Tct	p.P219S	HMG20A_uc002bcs.3_Missense_Mutation_p.P219S	NM_018200	NP_060670	Q9NP66	HM20A_HUMAN	Homo sapiens high mobility group 20A (HMG20A), mRNA.	219					chromatin modification	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.P219L(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						TTTTGACATCCCTATATTTAC	0.333000														28			17		0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73849579	73849579	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:73849579G>A	uc003xzb.3	+	2	2577	c.1989G>A	c.(1987-1989)agG>agA	p.R663R		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	663					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CTGCTGCCAGGGATGGCACGC	0.552000														6			50		0	0	1	0	0
MYOZ2	51778	broad.mit.edu	37	4	120107240	120107240	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:120107240C>T	uc003icp.4	+	5	893	c.680C>T	c.(679-681)tCt>tTt	p.S227F		NM_016599	NP_057683	Q9NPC6	MYOZ2_HUMAN	Homo sapiens myozenin 2 (MYOZ2), mRNA.	227							protein phosphatase 2B binding			endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						AATCCCCTTTCTGGCAGACGG	0.388000														52			27		0	0	1	0	0
KRTAP15-1	254950	broad.mit.edu	37	21	31812716	31812716	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr21:31812716C>T	uc002yod.3	+	0	71	c.71C>T	c.(70-72)tCc>tTc	p.S24F		NM_181623	NP_853654	Q3LI76	KR151_HUMAN	Homo sapiens keratin associated protein 15-1 (KRTAP15-1), mRNA.	24						intermediate filament				kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						TATCCAGTTTCCACTTATAAT	0.458000														36			23		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82586179	82586179	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:82586179C>T	uc003uhx.2	-	4	4379	c.4090G>A	c.(4090-4092)Gga>Aga	p.G1364R	PCLO_uc003uhv.2_Missense_Mutation_p.G1364R	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1295					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.T1363M(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GAAGAATATCCCGTGTCGCTC	0.423000														17			14		0	0	1	0	0
GIMAP1-GIMAP5	100527949	broad.mit.edu	37	7	150439698	150439698	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:150439698G>A	uc022apw.1	+	5	1223	c.1083G>A	c.(1081-1083)ggG>ggA	p.G361G	GIMAP1-GIMAP5_uc003whr.2_Silent_p.G157G	NM_001199577	NP_001186506			Homo sapiens GIMAP1-GIMAP5 readthrough (GIMAP1-GIMAP5), mRNA.																		AGGACTTAGGGGGCCAGGCCC	0.552000														161			36		0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140777335	140777335	+	Splice_Site	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:140777335G>A	uc004cog.3	+	3	675	c.530_splice	c.e3+1	p.G177_splice	AK128414_uc004cof.1_Non-coding_Transcript|CACNA1B_uc022bqn.1_Splice_Site_p.G177_splice	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	177					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GTCCTCACAGGGTAGGCAAGC	0.622000														133			22		0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1926949	1926949	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:1926949C>T	uc002qxe.3	-	9	1419	c.592G>A	c.(592-594)Gat>Aat	p.D198N	MYT1L_uc002qxd.3_Missense_Mutation_p.D198N|MYT1L_uc010ewl.2_Non-coding_Transcript	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	198					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		ACCAGTTCATCGTAATTGTCA	0.408000														13			8		0	0	1	0	0
CEP170	9859	broad.mit.edu	37	1	243362492	243362492	+	Silent	SNP	A	G	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:243362492A>G	uc021plo.1	-	6	909	c.501T>C	c.(499-501)atT>atC	p.I167I	CEP170_uc021plp.1_Silent_p.I167I|CEP170_uc021plq.1_Silent_p.I167I	NM_014812	NP_055627	Q5SW79	CE170_HUMAN	Homo sapiens centrosomal protein 170kDa (CEP170), transcript variant alpha, mRNA.	167						centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			GCATAGCAGAAATATCTGGAA	0.423000														22			7		0	0	1	0	0
OR5D13	390142	broad.mit.edu	37	11	55541105	55541105	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:55541105C>T	uc010ril.2	+	0	192	c.192C>T	c.(190-192)ttC>ttT	p.F64F		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 13 (OR5D13), mRNA.	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F64_L65>LI(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TGTGCTTTTTCCTTAGTCACT	0.398000														47			35		0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73065638	73065638	+	RNA	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:73065638G>A	uc004ebm.1	-	0		c.6951C>T								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		GGAAGGGAAAGGAAGACTGGG	0.498000														8			10		0	0	1	0	0
KRT8	3856	broad.mit.edu	37	12	53293738	53293738	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:53293738C>T	uc009zmk.1	-	5	906	c.886G>A	c.(886-888)Gag>Aag	p.E296K	KRT8_uc001sbd.2_Missense_Mutation_p.E268K|KRT8_uc009zml.1_Missense_Mutation_p.E268K|KRT8_uc009zmm.1_Missense_Mutation_p.E268K	NM_002273	NP_002264	P05787	K2C8_HUMAN	Homo sapiens keratin 8 (KRT8), transcript variant 2, mRNA.	268	Coil 2.|Necessary for interaction with PNN.|Rod.				cytoskeleton organization|interspecies interaction between organisms	cytoplasm|keratin filament|nuclear matrix|nucleoplasm	protein binding|structural molecule activity	p.H296H(1)		endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.108)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCAATATCCTCGTACTGTGCC	0.587000														51			18		0	0	1	0	0
APBA1	320	broad.mit.edu	37	9	72046288	72046288	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:72046288C>T	uc004ahh.2	-	12	2745	c.2469G>A	c.(2467-2469)gcG>gcA	p.A823A		NM_001163	NP_001154	Q02410	APBA1_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 1 (APBA1), mRNA.	823					axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						GCCTGTACATCGCGGCTGGCA	0.602000														70			29		0	0	1	0	0
ZNF385D	79750	broad.mit.edu	37	3	21462756	21462756	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:21462756G>A	uc003cce.3	-	7	1546	c.1138C>T	c.(1138-1140)Cct>Tct	p.P380S		NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	Homo sapiens zinc finger protein 385D (ZNF385D), mRNA.	380						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						ATGGGTCCAGGAGCTGGCCGC	0.502000														23			7		0	0	1	0	0
OR11H6	122748	broad.mit.edu	37	14	20692503	20692503	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:20692503C>T	uc010tlc.2	+	0	635	c.635C>T	c.(634-636)tCc>tTc	p.S212F		NM_001004480	NP_001004480	Q8NGC7	O11H6_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 6 (OR11H6), mRNA.	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S212Y(4)|p.P211T(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		TCTGCTCCTTCCACTGAGCTT	0.498000														22			9		0	0	1	0	0
LGMN	5641	broad.mit.edu	37	14	93180777	93180777	+	Missense_Mutation	SNP	A	G	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:93180777A>G	uc001yav.3	-	6	785	c.424T>C	c.(424-426)Ttc>Ctc	p.F142L	LGMN_uc001yat.3_Missense_Mutation_p.F142L|LGMN_uc001yau.3_Missense_Mutation_p.F142L|LGMN_uc001yaw.3_Missense_Mutation_p.F142L	NM_001008530	NP_005597	Q99538	LGMN_HUMAN	Homo sapiens legumain (LGMN), transcript variant 2, mRNA.	142					hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process	lysosome	cysteine-type endopeptidase activity|protein serine/threonine kinase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2)	18		all_cancers(154;0.0706)		COAD - Colon adenocarcinoma(157;0.224)		AAGTAAATGAACACGTGATCC	0.398000											OREG0022880	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		29			24		0	0	1	0	0
HERC2P3	283755	broad.mit.edu	37	15	20657798	20657798	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:20657798G>A	uc001ytg.3	-	15	2180	c.1471C>T	c.(1471-1473)Ccc>Tcc	p.P491S	HERC2P3_uc010tyx.1_Non-coding_Transcript|HERC2P3_uc001yth.4_Missense_Mutation_p.P491S|HERC2P3_uc010tyy.2_Missense_Mutation_p.P491S|HERC2P3_uc010tyz.1_3'UTR					Homo sapiens hect domain and RLD 2 pseudogene 3 (HERC2P3), non-coding RNA.											central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						GTTTGCAGGGGAACCGGCTGG	0.512000														31			9		0	0	1	0	0
ATP10D	57205	broad.mit.edu	37	4	47559879	47559879	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:47559879G>A	uc003gxk.1	+	11	2187	c.2023G>A	c.(2023-2025)Gag>Aag	p.E675K	ATP10D_uc003gxl.1_Intron	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA.	675					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TGTGGAGGAAGAGGTCTCCCA	0.527000														44			23		0	0	1	0	0
LAMB1	3912	broad.mit.edu	37	7	107580566	107580566	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:107580566C>T	uc003vev.2	-	22	3862	c.3701G>A	c.(3700-3702)aGt>aAt	p.S1234N	LAMB1_uc003vew.2_Missense_Mutation_p.S1210N	NM_002291	NP_002282	P07942	LAMB1_HUMAN	Homo sapiens laminin, beta 1 (LAMB1), mRNA.	1210	Domain II.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GATCACACCACTGATCTTCAA	0.562000														62			39		0	0	1	0	0
GLDC	2731	broad.mit.edu	37	9	6588622	6588623	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:6588622_6588623GG>AA	uc003zkc.3	-	12	1853_1854	c.1660_1661CC>TT	c.(1660-1662)cca>TTa	p.P554L		NM_000170	NP_000161	P23378	GCSP_HUMAN	Homo sapiens glycine dehydrogenase (decarboxylating) (GLDC), nuclear gene encoding mitochondrial protein, mRNA.	554					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	AACTACCAGTGGAATCATGCTG	0.431000														28			14		0	0	1	0	0
USP25	29761	broad.mit.edu	37	21	17199318	17199318	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr21:17199318C>T	uc011aby.1	+	13	1706	c.1489C>T	c.(1489-1491)Cta>Tta	p.L497L	USP25_uc002yjz.1_Silent_p.L497L|USP25_uc010gla.1_Intron|USP25_uc002yjy.1_Silent_p.L497L	NM_013396	NP_037528	Q9UHP3	UBP25_HUMAN	Homo sapiens ubiquitin specific peptidase 25 (USP25), mRNA.	497					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		ACAGGGAGCCCTATCTTCAGA	0.428000														61			26		0	0	1	0	0
C9orf174	100499483	broad.mit.edu	37	9	100080766	100080766	+	Silent	SNP	T	C	C			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:100080766T>C	uc011lut.2	+	23	2536	c.1530T>C	c.(1528-1530)agT>agC	p.S510S	C9orf174_uc004axe.2_Silent_p.S510S|C9orf174_uc011lus.2_Silent_p.S328S|C9orf174_uc004axg.2_Silent_p.S371S|C9orf174_uc010msm.1_Intron|C9orf174_uc004axf.3_Silent_p.S371S|C9orf174_uc011luv.1_Silent_p.S368S	NM_020893	NP_065944	Q9P1Z9	CI174_HUMAN	Homo sapiens chromosome 9 open reading frame 174 (C9orf174), mRNA.	510						integral to membrane				breast(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(1)	16						CCAGTGAGAGTATCCATACTC	0.562000														12			14		0	0	1	0	0
ABCG8	64241	broad.mit.edu	37	2	44099258	44099258	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:44099258G>A	uc002rtq.3	+	6	1198	c.1108G>A	c.(1108-1110)Gag>Aag	p.E370K	ABCG8_uc010yoa.2_Missense_Mutation_p.E370K	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 8 (ABCG8), mRNA.	370					cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GGATCTTGACGAGGACACCTG	0.557000														54			32		0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185801193	185801193	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:185801193G>A	uc002uph.3	+	3	1664	c.1070G>A	c.(1069-1071)gGa>gAa	p.G357E		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	357						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GAGTTGTTAGGAAATAAATCC	0.368000														33			9		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196636426	196636426	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:196636426C>T	uc002utj.4	-	60	11492	c.11391G>A	c.(11389-11391)aaG>aaA	p.K3797K	DNAH7_uc002uti.4_Silent_p.K280K	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3797					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.L3796L(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CTCTTATGGTCTTCAGTAACT	0.378000														92			49		0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	31877510	31877510	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:31877510C>T	uc003tcm.2	-	9	1517	c.1056G>A	c.(1054-1056)atG>atA	p.M352I	PDE1C_uc003tcn.1_Missense_Mutation_p.M352I|PDE1C_uc003tco.2_Missense_Mutation_p.M412I|PDE1C_uc003tcr.3_Missense_Mutation_p.M352I|PDE1C_uc003tcs.3_Missense_Mutation_p.M352I	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	352	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			GAGCAGTCTTCATTGCTTTGA	0.433000														103			58		0	0	1	0	0
LCE5A	254910	broad.mit.edu	37	1	152484149	152484149	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:152484149C>T	uc021oyx.1	+	0	139	c.139C>T	c.(139-141)Cca>Tca	p.P47S	LCE5A_uc001ezy.3_Missense_Mutation_p.P47S|CRCT1_uc001ezz.3_5'Flank	NM_178438	NP_848525	Q5TCM9	LCE5A_HUMAN	Homo sapiens late cornified envelope 5A (LCE5A), mRNA.	47	Cys-rich.				keratinization					lung(3)|ovary(1)|prostate(3)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGCCCACCTCCAGTCTCTTC	0.622000														54			26		0	0	1	0	0
KRT75	9119	broad.mit.edu	37	12	52827874	52827874	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:52827874G>A	uc001saj.2	-	0	237	c.215C>T	c.(214-216)tCc>tTc	p.S72F		NM_004693	NP_004684	O95678	K2C75_HUMAN	Homo sapiens keratin 75 (KRT75), mRNA.	72	Gly-rich.|Head.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		CCCATTGATGGAGACCCGCTT	0.622000														47			26		0	0	1	0	0
SEMA5A	9037	broad.mit.edu	37	5	9136628	9136628	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:9136628G>A	uc003jek.2	-	12	2299	c.1587C>T	c.(1585-1587)atC>atT	p.I529I		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A (SEMA5A), mRNA.	529					cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GACACGCAGAGATGCTCTGTT	0.582000														26			17		0	0	1	0	0
WDR35	57539	broad.mit.edu	37	2	20136055	20136055	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:20136055G>A	uc002rdi.3	-	20	2480	c.2372C>T	c.(2371-2373)tCt>tTt	p.S791F	WDR35_uc002rdj.3_Missense_Mutation_p.S780F|WDR35_uc010ext.3_Non-coding_Transcript|WDR35_uc002rdh.3_Missense_Mutation_p.S356F|WDR35_uc002rdk.4_Missense_Mutation_p.S356F	NM_001006657	NP_001006658	Q9P2L0	WDR35_HUMAN	Homo sapiens WD repeat domain 35 (WDR35), transcript variant 1, mRNA.	791										breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCATCACCAGATCCAGTTTT	0.458000														40			18		0	0	1	0	0
SPANXE	171489	broad.mit.edu	37	X	140785830	140785830	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:140785830G>A	uc004fbq.3	-	1	179	c.86C>T	c.(85-87)tCg>tTg	p.S29L		NM_145665	NP_663698	Q8TAD1	SPNXE_HUMAN	Homo sapiens SPANX family, member E (SPANXE), mRNA.	29						cytoplasm|nucleus						Acute lymphoblastic leukemia(192;7.65e-05)					GTACCCACTCGAGGTCTCCGG	0.478000														77			31		0	0	1	0	0
NPNT	255743	broad.mit.edu	37	4	106861258	106861258	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:106861258G>A	uc011cfd.2	+	6	835	c.622G>A	c.(622-624)Gcc>Acc	p.A208T	NPNT_uc011cfc.2_Missense_Mutation_p.A195T|NPNT_uc011cfe.2_Missense_Mutation_p.A208T|NPNT_uc003hya.3_Missense_Mutation_p.A178T|NPNT_uc011cff.2_Missense_Mutation_p.A178T	NM_001184691	NP_001171620	Q6UXI9	NPNT_HUMAN	Homo sapiens nephronectin (NPNT), transcript variant 3, mRNA.	178	EGF-like 4; calcium-binding (Potential).				cell differentiation	membrane	calcium ion binding			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		TACAGGAAGAGCCTCCTGCCC	0.388000														32			22		0	0	1	0	0
PRX	57716	broad.mit.edu	37	19	40901894	40901894	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:40901894C>T	uc002onr.3	-	6	2634	c.2365G>A	c.(2365-2367)Gca>Aca	p.A789T	PRX_uc002onq.3_Missense_Mutation_p.A650T|PRX_uc002ons.3_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Homo sapiens periaxin (PRX), transcript variant 2, mRNA.	789					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCCTGTTCTGCCTTGGTGGCC	0.597000														76			41		0	0	1	0	0
ETV1	2115	broad.mit.edu	37	7	13935541	13935541	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:13935541C>T	uc021zzz.1	-	11	1471	c.1384G>A	c.(1384-1386)Gaa>Aaa	p.E462K	ETV1_uc021zzt.1_Missense_Mutation_p.E422K|ETV1_uc021zzu.1_Missense_Mutation_p.E359K|ETV1_uc021zzv.1_Missense_Mutation_p.E404K|ETV1_uc021zzw.1_3'UTR|ETV1_uc021zzx.1_3'UTR|ETV1_uc021zzy.1_3'UTR|ETV1_uc022aaa.1_Missense_Mutation_p.E444K|ETV1_uc022aab.1_3'UTR|ETV1_uc003ssw.4_Missense_Mutation_p.E439K|ETV1_uc003ssx.3_Non-coding_Transcript|ETV1_uc022aac.1_3'UTR|ETV1_uc022aad.1_3'UTR|ETV1_uc021zzs.1_5'Flank	NM_004956	NP_004947	P50549	ETV1_HUMAN	Homo sapiens ets variant 1 (ETV1), transcript variant 1, mRNA.	462					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						CAGCCCCCTTCCGGCATGTAG	0.512000			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""									17			7		0	0	1	0	0
KCNMA1	3778	broad.mit.edu	37	10	78944663	78944663	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:78944663G>A	uc001jxn.3	-	3	791	c.614C>T	c.(613-615)tCc>tTc	p.S205F	KCNMA1_uc021ptu.1_Missense_Mutation_p.S151F|KCNMA1_uc001jxj.2_Missense_Mutation_p.S205F|KCNMA1_uc001jxk.1_5'Flank|KCNMA1_uc009xrt.1_Missense_Mutation_p.S25F|KCNMA1_uc001jxo.3_Missense_Mutation_p.S205F|KCNMA1_uc001jxm.3_Missense_Mutation_p.S205F|KCNMA1_uc001jxq.3_Missense_Mutation_p.S205F	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	Homo sapiens potassium large conductance calcium-activated channel, subfamily M, alpha member 1 (KCNMA1), transcript variant 3, mRNA.	205					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	ATTCTGGCAGGATTCTATTGG	0.428000														60			28		0	0	1	0	0
SH3PXD2B	285590	broad.mit.edu	37	5	171766268	171766268	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:171766268G>A	uc003mbr.3	-	12	2012	c.1841C>T	c.(1840-1842)cCc>cTc	p.P614L		NM_001017995	NP_001017995	A1X283	SPD2B_HUMAN	Homo sapiens SH3 and PX domains 2B (SH3PXD2B), mRNA.	614					adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	SH2 domain binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TTTGGAGATGGGCCGGAGGTT	0.527000														29			13		0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39230171	39230171	+	Missense_Mutation	SNP	C	T	T	rs150437844	by1000genomes	TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:39230171C>T	uc003cjk.2	-	1	995	c.766G>A	c.(766-768)Gca>Aca	p.A256T	XIRP1_uc003cji.3_Missense_Mutation_p.A256T|XIRP1_uc003cjj.3_Intron|XIRP1_uc021wvz.1_Missense_Mutation_p.A256T	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	256							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TCCCGGCATGCGGCCTTGACC	0.617000														53			39		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38835429	38835429	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:38835429C>T	uc003ciq.3	-	0	73	c.73G>A	c.(73-75)Gag>Aag	p.E25K		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	25					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	ATTTGCTTCTCTATCTCCACC	0.483000														82			40		0	0	1	0	0
ACSM1	116285	broad.mit.edu	37	16	20636748	20636748	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:20636748C>T	uc002dhm.1	-	10	1592	c.1524G>A	c.(1522-1524)ggG>ggA	p.G508G	ACSM1_uc002dhn.1_Intron|ACSM1_uc010bwg.1_Silent_p.G508G	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA.	508					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	ATP binding|GTP binding|acyl-CoA ligase activity|butyrate-CoA ligase activity|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						TCCTCACCTCCCCTCGAATCG	0.602000														24			8		0	0	1	0	0
ZSCAN20	7579	broad.mit.edu	37	1	33954146	33954146	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:33954146C>T	uc001bxj.4	+	2	666	c.499C>T	c.(499-501)Ccc>Tcc	p.P167S	ZSCAN20_uc001bxk.2_Missense_Mutation_p.P167S|ZSCAN20_uc009vui.3_Missense_Mutation_p.P167S	NM_145238	NP_660281	P17040	ZSC20_HUMAN	Homo sapiens zinc finger and SCAN domain containing 20 (ZSCAN20), mRNA.	167					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GCCAGTGGATCCCTGGCCTGA	0.522000														31			10		0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125103777	125103777	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:125103777G>A	uc003yqw.3	+	33	4711	c.4505G>A	c.(4504-4506)gGa>gAa	p.G1502E	AK057332_uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	1502						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			ATACAGATAGGAAACCAAGTC	0.453000														90			30		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	33988985	33988985	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:33988985G>A	uc001bxm.1	-	66	10608	c.10431C>T	c.(10429-10431)ctC>ctT	p.L3477L	CSMD2_uc001bxn.1_Silent_p.L3333L	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	3333						integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGTACACCTGGAGTAGGAGAT	0.388000														7			4		0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157504560	157504560	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:157504560G>A	uc009wsm.3	-	7	1683	c.1525C>T	c.(1525-1527)Cat>Tat	p.H509Y	FCRL5_uc001fqu.3_Missense_Mutation_p.H509Y|FCRL5_uc010phv.1_Missense_Mutation_p.H509Y|FCRL5_uc010phw.1_Missense_Mutation_p.H424Y|FCRL5_uc001fqv.1_Missense_Mutation_p.H509Y|FCRL5_uc010phx.2_Missense_Mutation_p.H260Y	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	509	Ig-like C2-type 5.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				ATGTCCTCATGATAAAACTGG	0.512000														19			11		0	0	1	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1993429	1993429	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:1993429C>T	uc021qsx.1	-	11	1562	c.1331G>A	c.(1330-1332)tGg>tAg	p.W444*	CACNA2D4_uc009zds.2_Non-coding_Transcript|CACNA2D4_uc009zdt.1_Intron	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 4 (CACNA2D4), mRNA.	444	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		GCATGCAATCCACTTCATGCG	0.542000														16			11		0	0	1	0	0
NFAT5	10725	broad.mit.edu	37	16	69681168	69681168	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:69681168C>T	uc002exm.2	+	2	773	c.437C>T	c.(436-438)cCa>cTa	p.P146L	NFAT5_uc002exj.2_Missense_Mutation_p.P70L|NFAT5_uc002exk.2_Missense_Mutation_p.P70L|NFAT5_uc002exl.2_Missense_Mutation_p.P164L|NFAT5_uc002exn.2_Missense_Mutation_p.P164L|NFAT5_uc002exh.2_Intron|NFAT5_uc002exi.3_Missense_Mutation_p.P70L	NM_006599	NP_775322	O94916	NFAT5_HUMAN	Homo sapiens nuclear factor of activated T-cells 5, tonicity-responsive (NFAT5), transcript variant 3, mRNA.	146					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TACATCTCACCACCACCTGAG	0.507000														54			35		0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227915704	227915704	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:227915704G>A	uc021vxr.1	-	31	3240	c.3139C>T	c.(3139-3141)Cca>Tca	p.P1047S	COL4A4_uc021vxs.1_Missense_Mutation_p.P1047S	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	1047	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TGGTCACCTGGAAGTCCTGGA	0.527000														51			26		0	0	1	0	0
C16orf72	29035	broad.mit.edu	37	16	9197091	9197091	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:9197091C>T	uc002czm.3	+	2	923	c.558C>T	c.(556-558)ccC>ccT	p.P186P		NM_014117	NP_054836	Q14CZ0	CP072_HUMAN	Homo sapiens chromosome 16 open reading frame 72 (C16orf72), mRNA.	186										endometrium(4)|large_intestine(2)|lung(2)	8						ATTTGCAACCCTTCCGGGAAG	0.473000														25			13		0	0	1	0	0
SERPINA12	145264	broad.mit.edu	37	14	94962758	94962758	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:94962758C>T	uc001ydj.3	-	3	1653	c.857G>A	c.(856-858)gGa>gAa	p.G286E		NM_173850	NP_776249	Q8IW75	SPA12_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12 (SERPINA12), mRNA.	286					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		CACCTGCAATCCCTTCTCCAA	0.483000														82			42		0	0	1	0	0
IL1R2	7850	broad.mit.edu	37	2	102626085	102626085	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:102626085G>A	uc002tbm.3	+	2	358	c.129G>A	c.(127-129)ggG>ggA	p.G43G	IL1R2_uc002tbn.3_Silent_p.G43G|IL1R2_uc002tbo.1_Silent_p.G43G	NM_004633	NP_775465	P27930	IL1R2_HUMAN	Homo sapiens interleukin 1 receptor, type II (IL1R2), transcript variant 1, mRNA.	43	Ig-like C2-type 1.				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28					Anakinra(DB00026)	GGCTGGAAGGGGAGCCTGTAG	0.597000														87			40		0	0	1	0	0
LYL1	4066	broad.mit.edu	37	19	13211542	13211542	+	Missense_Mutation	SNP	C	T	T	rs149285767	byFrequency	TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:13211542C>T	uc002mwi.3	-	2	1010	c.356G>A	c.(355-357)gGa>gAa	p.G119E		NM_005583	NP_005574	P12980	LYL1_HUMAN	Homo sapiens lymphoblastic leukemia derived sequence 1 (LYL1), mRNA.	119					B cell differentiation|blood vessel maturation|definitive hemopoiesis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			cervix(1)|endometrium(2)|kidney(1)|lung(2)|prostate(1)	7			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)			GCTAAAAGGTCCTGCTGGCCC	0.602000			T	TRB@	T-ALL									96			67		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179658154	179658154	+	Missense_Mutation	SNP	G	C	C			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:179658154G>C	uc021vsy.1	-	8	1738	c.1513C>G	c.(1513-1515)Cag>Gag	p.Q505E	TTN_uc021vsz.1_Missense_Mutation_p.Q505E|TTN_uc021vta.1_Missense_Mutation_p.Q505E|TTN_uc021vtb.1_Missense_Mutation_p.Q505E|TTN_uc002unb.2_Missense_Mutation_p.Q505E|TTN_uc010frg.1_Missense_Mutation_p.Q179E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	505							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACGTGCATCTGCTCTTGCTTT	0.403000														145			5		0	0	1	0	0
LPAR1	1902	broad.mit.edu	37	9	113637798	113637798	+	Missense_Mutation	SNP	T	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:113637798T>A	uc011lwo.2	-	2	1003	c.1001A>T	c.(1000-1002)aAc>aTc	p.N334I	LPAR1_uc004bfa.3_Missense_Mutation_p.N333I|LPAR1_uc011lwm.2_Missense_Mutation_p.N334I|LPAR1_uc004bfc.3_Missense_Mutation_p.N333I|LPAR1_uc011lwn.2_Missense_Mutation_p.N315I|LPAR1_uc004bfb.3_Missense_Mutation_p.N333I|LPAR1_uc010mub.3_Missense_Mutation_p.N333I	NM_057159	NP_476500	Q92633	LPAR1_HUMAN	Homo sapiens lysophosphatidic acid receptor 1 (LPAR1), transcript variant 2, mRNA.	333					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						GCCGGTGGGGTTCTCACTGCG	0.552000														58			16		0	0	1	0	0
COPA	1314	broad.mit.edu	37	1	160262956	160262956	+	Splice_Site	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:160262956C>T	uc001fvv.4	-	27	3244	c.2850_splice	c.e27+1	p.R950_splice	COPA_uc009wti.3_Splice_Site_p.R941_splice	NM_001098398	NP_001091868	P53621	COPA_HUMAN	Homo sapiens coatomer protein complex, subunit alpha (COPA), transcript variant 1, mRNA.	941					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGTTACTTACCCGCATGGCTG	0.468000														81			43		0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7548916	7548916	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:7548916C>T	uc010sge.2	-	7	1881	c.1855G>A	c.(1855-1857)Gat>Aat	p.D619N	CD163L1_uc001qsy.3_Missense_Mutation_p.D609N	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	609	SRCR 6.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CAGCCGTCATCACACACTGTG	0.572000														25			12		0	0	1	0	0
OR10H5	284433	broad.mit.edu	37	19	15905399	15905399	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:15905399G>A	uc010xos.2	+	0	541	c.541G>A	c.(541-543)Gtg>Atg	p.V181M		NM_001004466	NP_001004466	Q8NGA6	O10H5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 5 (OR10H5), mRNA.	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						CTTCTGCCACGTGCCACCTCT	0.582000														51			24		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141032134	141032134	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:141032134G>A	uc002tvj.1	-	84	13973	c.13001C>T	c.(13000-13002)tCa>tTa	p.S4334L		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	4334	EGF-like 13.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AATGGTACATGATTCAGAATT	0.403000										TSP Lung(27;0.18)				35			17		0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	97915703	97915703	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:97915703G>A	uc001drv.3	-	13	1954	c.1817C>T	c.(1816-1818)tCc>tTc	p.S606F		NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	606					'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	ATTCAGAAAGGAGCTTTGTCC	0.448000														39			19		0	0	1	0	0
SCAF4	57466	broad.mit.edu	37	21	33044051	33044051	+	Missense_Mutation	SNP	C	A	A	rs138418942		TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr21:33044051C>A	uc002ypd.2	-	19	3531	c.3105G>T	c.(3103-3105)agG>agT	p.R1035S	SCAF4_uc002ype.2_Missense_Mutation_p.R1013S|SCAF4_uc010glu.2_Missense_Mutation_p.R1020S	NM_020706	NP_065757	O95104	SFR15_HUMAN	Homo sapiens SR-related CTD-associated factor 4 (SCAF4), transcript variant 1, mRNA.	1035						nucleus	RNA binding|nucleotide binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						CAGGGCTCCTCCTTCCCCACT	0.488000														41			19		7.21436e-19	7.31353e-19	1	1	0
ZSCAN1	284312	broad.mit.edu	37	19	58565236	58565236	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:58565236G>A	uc002qrc.1	+	5	1291	c.1044G>A	c.(1042-1044)agG>agA	p.R348R		NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN	Homo sapiens zinc finger and SCAN domain containing 1 (ZSCAN1), mRNA.	348					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		AGCCACCGAGGAAGAAAGCCC	0.667000														35			6		0	0	1	0	0
GALNT13	114805	broad.mit.edu	37	2	154801148	154801148	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:154801148G>A	uc002tyt.4	+	0	242	c.138G>A	c.(136-138)ttG>ttA	p.L46L	GALNT13_uc002tyr.4_Silent_p.L46L	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) (GALNT13), mRNA.	46						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						TGCCTGCATTGAGGGGTAAGT	0.403000														74			41		0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131922026	131922026	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:131922026C>T	uc003ytd.4	-	5	1824	c.1568G>A	c.(1567-1569)aGg>aAg	p.R523K	ADCY8_uc010mds.3_Missense_Mutation_p.R523K	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	523					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CTGCCACTTCCTTAGTCCCAA	0.478000										HNSCC(32;0.087)				53			156		0	0	1	0	0
FGF13	2258	broad.mit.edu	37	X	137785187	137785187	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:137785187G>A	uc004fam.3	-	2	1023	c.361C>T	c.(361-363)Ctg>Ttg	p.L121L	FGF13_uc004fan.3_Silent_p.L68L|FGF13_uc011mwi.2_Silent_p.L102L|FGF13_uc004faq.3_Silent_p.L131L|FGF13_uc004far.3_Silent_p.L102L|FGF13_uc011mwj.2_Silent_p.L131L|FGF13_uc011mwk.2_Silent_p.L75L	NM_004114	NP_004105	Q92913	FGF13_HUMAN	Homo sapiens fibroblast growth factor 13 (FGF13), transcript variant 1, mRNA.	121					MAPKKK cascade|cell-cell signaling|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					GCCAAGTACAGCTTGGTTTGA	0.393000														23			35		0	0	1	0	0
BEST3	144453	broad.mit.edu	37	12	70049412	70049412	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:70049412C>T	uc001svg.3	-	9	1509	c.1282G>A	c.(1282-1284)Gac>Aac	p.D428N	BEST3_uc001svd.2_Intron|BEST3_uc001svf.3_Missense_Mutation_p.D215N|BEST3_uc010stm.2_Missense_Mutation_p.D322N	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	Homo sapiens bestrophin 3 (BEST3), transcript variant 1, mRNA.	428						chloride channel complex|plasma membrane	chloride channel activity	p.D428N(1)|p.D215N(1)		cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			GGGCTGAGGTCATCTCGGGGT	0.592000														45			31		0	0	1	0	0
GRID1	2894	broad.mit.edu	37	10	87614357	87614357	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:87614357G>A	uc001kdl.1	-	7	1230	c.1129C>T	c.(1129-1131)Ctc>Ttc	p.L377F	GRID1_uc009xsu.1_Non-coding_Transcript	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 1 (GRID1), mRNA.	377						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	ACCCCAGTGAGGCCAGTGATG	0.493000										Multiple Myeloma(13;0.14)				46			18		0	0	1	0	0
TSHZ1	10194	broad.mit.edu	37	18	73000170	73000170	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr18:73000170C>T	uc002lly.3	+	1	3236	c.2673C>T	c.(2671-2673)tcC>tcT	p.S891S	TSHZ1_uc021uln.1_Silent_p.S891S	NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	Homo sapiens teashirt zinc finger homeobox 1 (TSHZ1), mRNA.	936						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		CTGGGCTCTCCATGACCACCA	0.557000														40			12		0	0	1	0	0
CLSTN2	64084	broad.mit.edu	37	3	140282006	140282006	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:140282006C>T	uc003etn.3	+	14	2633	c.2443C>T	c.(2443-2445)Cat>Tat	p.H815Y		NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	Homo sapiens calsyntenin 2 (CLSTN2), mRNA.	815					homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CCAGTCTGTCCATCATCCTGA	0.527000										HNSCC(16;0.037)				77			44		0	0	1	0	0
EVX1	2128	broad.mit.edu	37	7	27283001	27283001	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:27283001G>A	uc003szd.1	+	0	838	c.352G>A	c.(352-354)Gat>Aat	p.D118N	EVX1_uc011jzn.1_5'UTR|EVX1_uc010kuy.1_Missense_Mutation_p.D118N	NM_001989	NP_001980	P49640	EVX1_HUMAN	Homo sapiens even-skipped homeobox 1 (EVX1), mRNA.	118	Asp/Glu-rich (acidic).					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|liver(1)|lung(10)|prostate(1)|skin(1)	14						CACCGAGTCGGATTTCTATGA	0.672000														20			4		0	0	1	0	0
SLC38A1	81539	broad.mit.edu	37	12	46600951	46600951	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:46600951C>T	uc009zkj.1	-	7	1235	c.550G>A	c.(550-552)Gaa>Aaa	p.E184K	SLC38A1_uc001rpb.3_Missense_Mutation_p.E184K|SLC38A1_uc001rpc.3_Missense_Mutation_p.E184K|SLC38A1_uc001rpd.3_Missense_Mutation_p.E184K|SLC38A1_uc001rpe.3_Missense_Mutation_p.E184K|SLC38A1_uc010slh.2_Missense_Mutation_p.E157K|SLC38A1_uc001rpa.3_Missense_Mutation_p.E184K	NM_030674	NP_109599	Q9H2H9	S38A1_HUMAN	Homo sapiens solute carrier family 38, member 1 (SLC38A1), transcript variant 1, mRNA.	184					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			AATGTCTCTTCCTTTCCCATT	0.303000														31			11		0	0	1	0	0
RASSF6	166824	broad.mit.edu	37	4	74450947	74450947	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:74450947C>T	uc003hhd.1	-	5	736	c.613G>A	c.(613-615)Gaa>Aaa	p.E205K	RASSF6_uc003hhc.1_Missense_Mutation_p.E173K|RASSF6_uc010iik.1_Missense_Mutation_p.E173K|RASSF6_uc010iil.1_Missense_Mutation_p.E161K	NM_201431	NP_803876	Q6ZTQ3	RASF6_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 6 (RASSF6), transcript variant 2, mRNA.	205					apoptosis|signal transduction		protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			TTCTGTCTTTCTTTTCTGTCC	0.383000														34			17		0	0	1	0	0
MCM4	4173	broad.mit.edu	37	8	48883186	48883187	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:48883186_48883187CC>TT	uc003xqk.2	+	11	2376_2377	c.1550_1551CC>TT	c.(1549-1551)tcc>tTT	p.S517F	MCM4_uc003xql.2_Missense_Mutation_p.S517F|MCM4_uc011ldi.2_Missense_Mutation_p.S504F	NM_182746	NP_877423	P33991	MCM4_HUMAN	Homo sapiens minichromosome maintenance complex component 4 (MCM4), transcript variant 2, mRNA.	517	MCM.				DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				ACCAGCAAGTCCCAGCTGCTGC	0.559000														76			15		0	0	1	0	0
FBXW10	10517	broad.mit.edu	37	17	18668087	18668087	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:18668087G>A	uc002gul.3	+	6	1785	c.1553G>A	c.(1552-1554)cGa>cAa	p.R518Q	FBXW10_uc002guj.3_Missense_Mutation_p.R489Q|FBXW10_uc002guk.3_Missense_Mutation_p.R489Q|FBXW10_uc010cqh.2_Missense_Mutation_p.R489Q	NM_031456	NP_113644	Q5XX13	FBW10_HUMAN	Homo sapiens F-box and WD repeat domain containing 10 (FBXW10), mRNA.	489										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						GTTTGCACACGAATCTTCGGT	0.493000														27			14		0	0	1	0	0
OR8D2	283160	broad.mit.edu	37	11	124189191	124189191	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:124189191C>T	uc010sah.2	-	0	903	c.903G>A	c.(901-903)ctG>ctA	p.L301L		NM_001002918	NP_001002918	Q9GZM6	OR8D2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 2 (OR8D2), mRNA.	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		TCATCTTCTTCAGTGCATTTT	0.393000														45			23		0	0	1	0	0
DHX8	1659	broad.mit.edu	37	17	41590762	41590762	+	Silent	SNP	G	C	C	rs150512730		TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:41590762G>C	uc002idu.1	+	16	2607	c.2535G>C	c.(2533-2535)tcG>tcC	p.S845S	DHX8_uc010wif.1_Silent_p.S754S|DHX8_uc010wig.2_Silent_p.S845S	NM_004941	NP_004932	Q14562	DHX8_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 8 (DHX8), mRNA.	845	Helicase C-terminal.					catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		CAGAGACATCGCTGACTATTG	0.512000														82			41		0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137620588	137620588	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:137620588G>A	uc004cfe.3	+	5	1241	c.859G>A	c.(859-861)Ggg>Agg	p.G287R		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	287	Nonhelical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CGAAGACCTAGGGAAGGAGCC	0.612000														80			50		0	0	1	0	0
SLC4A2	6522	broad.mit.edu	37	7	150768656	150768656	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:150768656G>A	uc022apz.1	+	13	3195	c.2155G>A	c.(2155-2157)Gcc>Acc	p.A719T	SLC4A2_uc003wit.4_Missense_Mutation_p.A719T|SLC4A2_uc011kve.2_Missense_Mutation_p.A710T|SLC4A2_uc003wiu.4_Missense_Mutation_p.A705T	NM_001199692	NP_001186621	P04920	B3A2_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1) (SLC4A2), transcript variant 2, mRNA.	719	Membrane (anion exchange).				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTACTTTGCCGCCCTGTCTCC	0.642000														45			14		0	0	1	0	0
LRRC8C	84230	broad.mit.edu	37	1	90179192	90179192	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:90179192C>T	uc001dnl.4	+	2	1305	c.1063C>T	c.(1063-1065)Cgt>Tgt	p.R355C		NM_032270	NP_115646	Q8TDW0	LRC8C_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member C (LRRC8C), mRNA.	355						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		TGAGTATGTCCGTCAGGAGAC	0.383000														22			16		0	0	1	0	0
PRKCA	5578	broad.mit.edu	37	17	64738852	64738853	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:64738852_64738853GG>AA	uc002jfo.1	+	13	1603_1604	c.1111_1112GG>AA	c.(1111-1113)ggg>AAg	p.G371K	PRKCA_uc002jfp.1_Missense_Mutation_p.G500K			P17252	KPCA_HUMAN	Homo sapiens protein kinase C, alpha (PRKCA), mRNA.	500	Protein kinase.				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	GACCTTCTGTGGGACTCCAGAT	0.480000														39			11		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54860025	54860025	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:54860025C>T	uc021smr.1	+	27	5980	c.5980C>T	c.(5980-5982)Ctg>Ttg	p.L1994L	UNC13C_uc021sms.1_Silent_p.L1996L	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	1996	MHD2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AGGAAATGGCCTGAAAAAGAA	0.353000														9			3		0	0	1	0	0
OR2Z1	284383	broad.mit.edu	37	19	8841819	8841819	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:8841819G>A	uc010xkg.2	+	0	429	c.429G>A	c.(427-429)ctG>ctA	p.L143L		NM_001004699	NP_001004699	Q8NG97	OR2Z1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily Z, member 1 (OR2Z1), mRNA.	143					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TATGTCTGCTGATGATGGGCT	0.547000														55			25		0	0	1	0	0
AQPEP	206338	broad.mit.edu	37	5	115338599	115338599	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:115338599C>T	uc003kro.3	+	10	2052	c.1888C>T	c.(1888-1890)Caa>Taa	p.Q630*	AQPEP_uc003krp.3_Non-coding_Transcript|AQPEP_uc003krs.3_Non-coding_Transcript|AQPEP_uc003krq.3_Non-coding_Transcript|AQPEP_uc003krr.3_Non-coding_Transcript	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN	Homo sapiens laeverin (AQPEP), mRNA.	630					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										CTGGCTAGATCAAAGCAGCAG	0.294000														20			11		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141625798	141625798	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:141625798G>A	uc002tvj.1	-	25	5176	c.4204C>T	c.(4204-4206)Cct>Tct	p.P1402S	LRP1B_uc010fnl.1_Missense_Mutation_p.P584S	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	1402					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCAATGCGAGGAAAATTTGCA	0.348000										TSP Lung(27;0.18)				51			21		0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72175941	72175941	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:72175941G>A	uc002atl.4	-	27	5865	c.5392C>T	c.(5392-5394)Cca>Tca	p.P1798S	MYO9A_uc002atk.3_Missense_Mutation_p.P593S|MYO9A_uc002atm.1_Missense_Mutation_p.P594S	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	Homo sapiens myosin IXA (MYO9A), mRNA.	1798	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	ATP binding|GTPase activator activity|actin binding|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TTACCATCTGGAAACTGATGA	0.423000														42			28		0	0	1	0	0
MYF5	4617	broad.mit.edu	37	12	81112661	81112661	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:81112661C>T	uc001szg.2	+	2	734	c.599C>T	c.(598-600)tCc>tTc	p.S200F		NM_005593	NP_005584	P13349	MYF5_HUMAN	Homo sapiens myogenic factor 5 (MYF5), mRNA.	200					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						GATAAAAACTCCTTATCCAGC	0.418000														57			17		0	0	1	0	0
REM1	28954	broad.mit.edu	37	20	30064458	30064458	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr20:30064458C>T	uc002wwa.3	+	1	494	c.210C>T	c.(208-210)tcC>tcT	p.S70S		NM_014012	NP_054731	O75628	REM1_HUMAN	Homo sapiens RAS (RAD and GEM)-like GTP-binding 1 (REM1), mRNA.	70					small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity|calmodulin binding			kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CTTCTGAATCCAGCGACTCTG	0.592000														43			16		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90086768	90086768	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:90086768G>A	uc003kju.3	+	69	14218	c.14122G>A	c.(14122-14124)Gga>Aga	p.G4708R	GPR98_uc003kjt.3_Missense_Mutation_p.G2414R|GPR98_uc003kjw.3_Missense_Mutation_p.G369R	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	4708	Calx-beta 32.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CATTGCTGATGGAGAGAGTGA	0.393000														53			36		0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103182757	103182757	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:103182757C>T	uc001phn.1	+	79	11809	c.11665C>T	c.(11665-11667)Cct>Tct	p.P3889S	DYNC2H1_uc009yxe.1_Intron|DYNC2H1_uc001pho.2_Missense_Mutation_p.P3882S	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	3882	AAA 6 (By similarity).				Golgi organization|cell projection organization|microtubule-based movement|multicellular organismal development	Golgi apparatus|cilium axoneme|dynein complex|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AAACTATATTCCTCAGGTAAG	0.363000														44			20		0	0	1	0	0
TPH2	121278	broad.mit.edu	37	12	72388250	72388250	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:72388250C>T	uc009zrw.1	+	7	1114	c.973C>T	c.(973-975)Cca>Tca	p.P325S	TPH2_uc001swy.2_Missense_Mutation_p.P235S	NM_173353	NP_775489	Q8IWU9	TPH2_HUMAN	Homo sapiens tryptophan hydroxylase 2 (TPH2), mRNA.	325					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	GGGACATGTTCCACTACTTGC	0.423000														69			34		0	0	1	0	0
TTC7A	57217	broad.mit.edu	37	2	47221559	47221559	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:47221559C>T	uc010fbb.3	+	6	1275	c.907C>T	c.(907-909)Ccc>Tcc	p.P303S	TTC7A_uc002rvm.3_Missense_Mutation_p.P269S|TTC7A_uc002rvn.1_Missense_Mutation_p.P184S|TTC7A_uc002rvo.3_Missense_Mutation_p.P303S|TTC7A_uc010fbc.3_Intron|TTC7A_uc002rvp.3_Missense_Mutation_p.P184S|TTC7A_uc002rvq.3_Missense_Mutation_p.P43S|TTC7A_uc002rvr.3_5'UTR	NM_020458	NP_065191	Q9ULT0	TTC7A_HUMAN	Homo sapiens tetratricopeptide repeat domain 7A (TTC7A), mRNA.	303							binding	p.P303P(1)		breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			CTACTGGAGCCCCCTGTCCCA	0.607000														59			43		0	0	1	0	0
CYP4A11	1579	broad.mit.edu	37	1	47402346	47402346	+	Missense_Mutation	SNP	C	T	T	rs144065752		TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:47402346C>T	uc001cqp.4	-	3	551	c.500G>A	c.(499-501)cGa>cAa	p.R167Q	CYP4A11_uc001cqq.2_Missense_Mutation_p.R167Q|CYP4A11_uc010omm.1_Non-coding_Transcript	NM_000778	NP_000769	Q02928	CP4AB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA.	167					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	CAGCATCACTCGTACAGAGTC	0.562000														25			41		0	0	1	0	0
ACSS3	79611	broad.mit.edu	37	12	81545838	81545838	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:81545838G>A	uc001szl.1	+	6	1152	c.1061G>A	c.(1060-1062)gGa>gAa	p.G354E	ACSS3_uc001szm.1_Missense_Mutation_p.G353E|ACSS3_uc001szn.1_Missense_Mutation_p.G36E	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 3 (ACSS3), mRNA.	354						mitochondrion	ATP binding|acetate-CoA ligase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						ATCTGCTATGGACCTCTTCTT	0.303000														45			17		0	0	1	0	0
ZNF883	169834	broad.mit.edu	37	9	115759671	115759671	+	Missense_Mutation	SNP	A	C	C			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:115759671A>C	uc011lwy.2	-	4	2108	c.869T>G	c.(868-870)gTg>gGg	p.V290G		NM_001101338	NP_001094808	P0CG24	ZN883_HUMAN	Homo sapiens zinc finger protein 883 (ZNF883), mRNA.	290					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										ATAGGGTTTCACACAAGAATG	0.383000														118			44		0	0	1	0	0
LRRN4CL	221091	broad.mit.edu	37	11	62455746	62455746	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:62455746G>A	uc021qkm.1	-	0	235	c.235C>T	c.(235-237)Ccc>Tcc	p.P79S	LRRN4CL_uc001nun.3_Missense_Mutation_p.P79S	NM_203422	NP_981967	Q8ND94	LRN4L_HUMAN	Homo sapiens LRRN4 C-terminal like (LRRN4CL), mRNA.	79						integral to membrane				cervix(1)|kidney(1)	2						GGCTGGGCGGGGCTGGAGAGT	0.716000														7			5		0	0	1	0	0
CARD6	84674	broad.mit.edu	37	5	40854101	40854101	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:40854101C>T	uc003jmg.3	+	2	2742	c.2667C>T	c.(2665-2667)tcC>tcT	p.S889S		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	Homo sapiens caspase recruitment domain family, member 6 (CARD6), mRNA.	889					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						TAAGAACATCCCATATTGGAA	0.488000														52			34		0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166901678	166901678	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:166901678C>T	uc002udo.4	-	11	1764	c.1537G>A	c.(1537-1539)Gaa>Aaa	p.E513K	SCN1A_uc010fpk.3_Missense_Mutation_p.E513K|SCN1A_uc021vsb.1_Missense_Mutation_p.E513K	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	513						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TCTTTCTCTTCCCCACCAGAC	0.433000														132			50		0	0	1	0	0
PLCZ1	89869	broad.mit.edu	37	12	18854670	18854670	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:18854670C>T	uc021qvx.1	-	7	1096	c.905G>A	c.(904-906)gGa>gAa	p.G302E	PLCZ1_uc001rdv.4_Missense_Mutation_p.G198E|PLCZ1_uc001rdw.4_Missense_Mutation_p.G43E|PLCZ1_uc001rdu.1_Missense_Mutation_p.G43E|PLCZ1_uc009zil.1_Non-coding_Transcript	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN	Homo sapiens phospholipase C, zeta 1 (PLCZ1), mRNA.	302					intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					CTTTAAGGTTCCTATTTTCTT	0.363000														16			6		0	0	1	0	0
RXFP2	122042	broad.mit.edu	37	13	32313824	32313824	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr13:32313824C>T	uc001utt.3	+	0	146	c.75C>T	c.(73-75)atC>atT	p.I25I	RXFP2_uc010aba.3_Silent_p.I25I	NM_130806	NP_570718	Q8WXD0	RXFP2_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 2 (RXFP2), transcript variant 1, mRNA.	25						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		TTCATTTCATCGTTCTGATCA	0.318000														42			17		0	0	1	0	0
BUB1	699	broad.mit.edu	37	2	111431705	111431705	+	Missense_Mutation	SNP	T	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:111431705T>A	uc002tgc.3	-	2	295	c.183A>T	c.(181-183)aaA>aaT	p.K61N	BUB1_uc010yxh.2_Missense_Mutation_p.K41N|BUB1_uc010fkb.3_Missense_Mutation_p.K61N|BUB1_uc002tgd.2_Missense_Mutation_p.K61N	NM_004336	NP_004327	O43683	BUB1_HUMAN	Homo sapiens budding uninhibited by benzimidazoles 1 homolog (yeast) (BUB1), mRNA.	61	BUB1 N-terminal.|Necessary for kinetochore localization.				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		CATTGTGGTATTTCTTCTTAT	0.264000														19			11		0	0	1	0	0
THSD4	79875	broad.mit.edu	37	15	71447268	71447268	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:71447268G>A	uc002atb.1	+	1	175	c.96G>A	c.(94-96)agG>agA	p.R32R		NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	Homo sapiens thrombospondin, type I, domain containing 4 (THSD4), mRNA.	32						proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CTCAACACAGGAAGGTAAGCC	0.527000														51			30		0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	36242644	36242644	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr13:36242644C>T	uc021rid.1	+	56	9272	c.8738C>T	c.(8737-8739)tCc>tTc	p.S2913F	NBEA_uc021ric.1_Missense_Mutation_p.S2910F|NBEA_uc010abi.3_Missense_Mutation_p.S1571F|MAB21L1_uc001uvc.3_Intron|NBEA_uc010tef.2_Missense_Mutation_p.S706F|NBEA_uc001uvd.3_Missense_Mutation_p.S491F	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	2913						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		ATGGACTTGTCCCATGACCAG	0.498000														27			16		0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10247208	10247208	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:10247208G>A	uc002gmk.1	-	15	1893	c.1803C>T	c.(1801-1803)gaC>gaT	p.D601D	MYH13_uc010vvf.1_Silent_p.D276D	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	601	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CGTTCAGGGGGTCCTTGTTTT	0.547000														37			26		0	0	1	0	0
ATP2A3	489	broad.mit.edu	37	17	3839645	3839645	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:3839645G>A	uc002fwy.2	-	15	2613	c.2440C>T	c.(2440-2442)Ctg>Ttg	p.L814L	ATP2A3_uc002fwz.2_Silent_p.L814L|ATP2A3_uc002fxa.2_Silent_p.L814L|ATP2A3_uc002fxb.2_Silent_p.L814L|ATP2A3_uc002fxc.2_Silent_p.L814L|ATP2A3_uc002fxd.2_Silent_p.L814L|ATP2A3_uc002fwx.2_Silent_p.L814L	NM_174953	NP_777613	Q93084	AT2A3_HUMAN	Homo sapiens ATPase, Ca++ transporting, ubiquitous (ATP2A3), transcript variant 5, mRNA.	814					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		ATGATGTCCAGGTCTGGCGGG	0.642000														53			33		0	0	1	0	0
TNFRSF21	27242	broad.mit.edu	37	6	47252065	47252065	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:47252065C>T	uc003oyv.3	-	2	1285	c.852G>A	c.(850-852)ggG>ggA	p.G284G		NM_014452	NP_055267	O75509	TNR21_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 21 (TNFRSF21), mRNA.	284					cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			CGTCTTCCTTCCCCCTTGCTG	0.537000														112			151		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21098365	21098365	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:21098365C>T	uc010vbe.2	-	18	2682	c.2682G>A	c.(2680-2682)ctG>ctA	p.L894L		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	894	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GCTCAGCATTCAGTAAGAAGA	0.468000														59			31		0	0	1	0	0
ENPP5	59084	broad.mit.edu	37	6	46135214	46135214	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:46135214G>A	uc003oxz.1	-	1	994	c.786C>T	c.(784-786)acC>acT	p.T262T	ENPP5_uc010jzc.1_Silent_p.T262T|ENPP5_uc011dvz.1_Silent_p.T168T|ENPP5_uc003oya.1_Silent_p.T262T	NM_021572	NP_067547	Q9UJA9	ENPP5_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative) (ENPP5), mRNA.	262						extracellular region|integral to membrane	hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						GATCAATCAGGGTATAGTGGT	0.443000														120			72		0	0	1	0	0
SLC26A8	116369	broad.mit.edu	37	6	35919229	35919229	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:35919229C>T	uc003olm.3	-	17	2391	c.2280G>A	c.(2278-2280)ggG>ggA	p.G760G	SLC26A8_uc010jwa.3_Non-coding_Transcript|SLC26A8_uc003olk.3_Silent_p.G342G|SLC26A8_uc003oll.3_Silent_p.G655G|SLC26A8_uc003oln.3_Silent_p.G760G	NM_001193476	NP_443193	Q96RN1	S26A8_HUMAN	Homo sapiens solute carrier family 26, member 8 (SLC26A8), transcript variant 3, mRNA.	760	Interaction with RACGAP1.|STAS.				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						CACAGTGACACCCTGCAATGA	0.468000														120			30		0	0	1	0	0
OR10K2	391107	broad.mit.edu	37	1	158389846	158389846	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:158389846C>T	uc010pii.2	-	0	811	c.811G>A	c.(811-813)Gat>Aat	p.D271N		NM_001004476	NP_001004476	Q6IF99	O10K2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily K, member 2 (OR10K2), mRNA.	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q270H(1)		NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					ATTAGAGCATCCTGGCTTGAG	0.378000														46			17		0	0	1	0	0
MTMR14	64419	broad.mit.edu	37	3	9739402	9739402	+	Missense_Mutation	SNP	G	C	C			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:9739402G>C	uc003brz.3	+	17	1772	c.1621G>C	c.(1621-1623)Gac>Cac	p.D541H	MTMR14_uc003bsa.3_Intron|MTMR14_uc003bsb.3_Intron|MTMR14_uc011ath.2_Non-coding_Transcript|MTMR14_uc010hcl.3_Intron|MTMR14_uc003bsc.3_Non-coding_Transcript|MTMR14_uc021wss.1_Intron	NM_001077525	NP_001070993	Q8NCE2	MTMRE_HUMAN	Homo sapiens myotubularin related protein 14 (MTMR14), transcript variant 2, mRNA.	541						perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					CAGATCAGTGGACCATCCCCT	0.612000														125			73		0	0	1	0	0
MORN5	254956	broad.mit.edu	37	9	124929074	124929074	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:124929074C>T	uc011lyn.2	+	1	137	c.75C>T	c.(73-75)ctC>ctT	p.L25L	MORN5_uc011lyo.1_Silent_p.L25L|MORN5_uc004blw.2_Silent_p.L25L	NM_198469	NP_940871	Q5VZ52	MORN5_HUMAN	Homo sapiens MORN repeat containing 5 (MORN5), mRNA.	25										endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	9						AGTACATCCTCCCTACCGAAA	0.527000														21			8		0	0	1	0	0
PSG2	5670	broad.mit.edu	37	19	43579648	43579648	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:43579648C>T	uc002ovr.3	-	2	739	c.567G>A	c.(565-567)atG>atA	p.M189I	PSG4_uc010xwk.1_Intron	NM_031246	NP_112536	P11465	PSG2_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 2 (PSG2), mRNA.	189	Ig-like C2-type 1.				cell migration|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				ACCTATGAGTCATAGGGAGGC	0.483000														182			122		0	0	1	0	0
HCN4	10021	broad.mit.edu	37	15	73617306	73617306	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:73617306G>A	uc002avp.3	-	5	2962	c.1968C>T	c.(1966-1968)tcC>tcT	p.S656S		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 4 (HCN4), mRNA.	656					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		CTCCAAAGTAGGAGCCGTCGG	0.632000														16			9		0	0	1	0	0
SLC9C2	284525	broad.mit.edu	37	1	173567119	173567119	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:173567119G>A	uc001giz.2	-	3	704	c.281C>T	c.(280-282)tCt>tTt	p.S94F	SLC9C2_uc010pmq.1_Non-coding_Transcript	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA.	94					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										TGAAAAGTAAGAATAAAGTGA	0.308000														31			25		0	0	1	0	0
STRN	6801	broad.mit.edu	37	2	37105146	37105146	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:37105146G>A	uc002rpn.3	-	9	1220	c.1211C>T	c.(1210-1212)tCt>tTt	p.S404F	STRN_uc010ezx.3_Missense_Mutation_p.S367F	NM_003162	NP_003153	O43815	STRN_HUMAN	Homo sapiens striatin, calmodulin binding protein (STRN), mRNA.	404					Wnt receptor signaling pathway|dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				CTTTCCAGAAGAAGGAGGAAA	0.433000														115			48		0	0	1	0	0
ZPLD1	131368	broad.mit.edu	37	3	102183018	102183018	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:102183018G>A	uc003dvt.1	+	6	832	c.732G>A	c.(730-732)tgG>tgA	p.W244*	ZPLD1_uc003dvs.1_Nonsense_Mutation_p.W228*|ZPLD1_uc011bhg.1_Nonsense_Mutation_p.W228*	NM_175056	NP_778226	Q8TCW7	ZPLD1_HUMAN	Homo sapiens zona pellucida-like domain containing 1 (ZPLD1), mRNA.	228	ZP.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						CTTTCAGATGGAATGTTTTAA	0.318000														57			28		0	0	1	0	0
VSTM4	196740	broad.mit.edu	37	10	50256544	50256544	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:50256544G>A	uc001jhf.2	-	5	783	c.754C>T	c.(754-756)Cct>Tct	p.P252S		NM_001031746	NP_001026916	Q8IW00	CJ072_HUMAN	Homo sapiens V-set and transmembrane domain containing 4 (VSTM4), transcript variant 1, mRNA.	252						integral to membrane|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						ACTGCGGGAGGAATGTCAGGC	0.527000														65			19		0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7683569	7683569	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:7683569C>T	uc002giu.1	+	35	5831	c.5817C>T	c.(5815-5817)atC>atT	p.I1939I		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	1939	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TTGCAGAAATCATTCTCTTTG	0.468000														141			52		0	0	1	0	0
PTK2B	2185	broad.mit.edu	37	8	27311744	27311744	+	Missense_Mutation	SNP	C	T	T	rs140923137	byFrequency	TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:27311744C>T	uc003xfn.2	+	33	3477	c.2669C>T	c.(2668-2670)gCc>gTc	p.A890V	PTK2B_uc022ate.1_Missense_Mutation_p.A890V|PTK2B_uc003xfp.2_Missense_Mutation_p.A890V|PTK2B_uc003xfq.2_Missense_Mutation_p.A848V	NM_173174	NP_775268	Q14289	FAK2_HUMAN	Homo sapiens PTK2B protein tyrosine kinase 2 beta (PTK2B), transcript variant 1, mRNA.	890	Focal adhesion targeting (FAT).|Interaction with TGFB1I1 (By similarity).				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		CTGGTGCGGGCCGTGCTGGAG	0.637000														11			22		0	0	1	0	0
ATP10B	23120	broad.mit.edu	37	5	160061526	160061526	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:160061526C>T	uc003lym.1	-	11	2063	c.1216G>A	c.(1216-1218)Gat>Aat	p.D406N	ATP10B_uc003lyp.2_Missense_Mutation_p.D406N|ATP10B_uc011deg.1_Missense_Mutation_p.D450N|ATP10B_uc003lyn.3_5'UTR|ATP10B_uc003lyo.2_Missense_Mutation_p.D378N	NM_025153	NP_079429	O94823	AT10B_HUMAN	Homo sapiens ATPase, class V, type 10B (ATP10B), mRNA.	406					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTCTCTTCATCATACAGGTCA	0.493000														61			33		0	0	1	0	0
ZNF195	7748	broad.mit.edu	37	11	3380510	3380510	+	Silent	SNP	T	C	C			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:3380510T>C	uc001lxt.3	-	5	1910	c.1728A>G	c.(1726-1728)aaA>aaG	p.K576K	ZNF195_uc010qxr.2_Silent_p.K557K|ZNF195_uc009ydz.3_Silent_p.K531K|ZNF195_uc001lxu.3_Silent_p.K508K|ZNF195_uc001lxv.3_Silent_p.K553K|ZNF195_uc021qck.1_Silent_p.K508K|ZNF195_uc001lxs.3_Silent_p.K504K	NM_001130520	NP_001123992	O14628	ZN195_HUMAN	Homo sapiens zinc finger protein 195 (ZNF195), transcript variant 1, mRNA.	576					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		ATTTGTAGGGTTTCTCTCCAG	0.393000														91			7		0	0	1	0	0
GCOM1	145781	broad.mit.edu	37	15	57925811	57925811	+	Splice_Site	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:57925811G>A	uc002aei.3	+	8	936	c.805_splice	c.e8-1	p.E269_splice	GCOM1_uc002aej.3_Splice_Site_p.E269_splice|GCOM1_uc002aek.3_Splice_Site|GCOM1_uc002ael.3_Splice_Site|GCOM1_uc002aem.3_Splice_Site_p.E269_splice|GCOM1_uc002aep.3_Splice_Site|GCOM1_uc010bfx.3_Splice_Site|GCOM1_uc002aeq.3_Splice_Site|GCOM1_uc002aen.3_Splice_Site|GCOM1_uc010bfy.3_Splice_Site|GCOM1_uc002aeo.3_Splice_Site_p.E269_splice	NM_001018100	NP_001018110	P0CAP1	GCOM1_HUMAN	Homo sapiens myocardial zonula adherens protein (MYZAP), transcript variant 1, mRNA.	269					intracellular signal transduction	I band|extrinsic to internal side of plasma membrane				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						TCTTTTGCAGGAAGAAACCAA	0.463000														48			19		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179506986	179506986	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:179506986C>T	uc021vsy.1	-	167	33057	c.32832G>A	c.(32830-32832)aaG>aaA	p.K10944K	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Silent_p.K4639K|TTN_uc021vta.1_Silent_p.K4572K|TTN_uc021vtb.1_Silent_p.K4447K|TTN_uc010fre.1_Silent_p.K822K|TTN_uc002umw.1_Intron|TTN_uc002umx.1_Intron	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	11871	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAACTTCTTCCTTTGGTTCAG	0.313000														5			4		0	0	1	0	0
CYP4F12	66002	broad.mit.edu	37	19	15795656	15795656	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:15795656G>A	uc002nbl.3	+	7	1068	c.949G>A	c.(949-951)Gat>Aat	p.D317N		NM_023944	NP_076433			Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA.											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					GTCAGATGAGGATATAAGAGC	0.498000														47			20		0	0	1	0	0
PTPRJ	5795	broad.mit.edu	37	11	48157688	48157688	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:48157688C>T	uc001ngp.4	+	8	2068	c.1713C>T	c.(1711-1713)taC>taT	p.Y571Y	PTPRJ_uc010rhr.1_Silent_p.Y16Y	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, J (PTPRJ), transcript variant 1, mRNA.	571	Fibronectin type-III 6.				contact inhibition|negative regulation of MAP kinase activity|negative regulation of T cell receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						AGTATGTCTACCATTTAGTCA	0.512000														35			13		0	0	1	0	0
VSIG10	54621	broad.mit.edu	37	12	118506341	118506341	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:118506341C>T	uc001tws.3	-	7	1742	c.1408G>A	c.(1408-1410)Gag>Aag	p.E470K		NM_019086	NP_061959	Q8N0Z9	VSI10_HUMAN	Homo sapiens V-set and immunoglobulin domain containing 10 (VSIG10), mRNA.	470	Glu-rich.					integral to membrane				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						tcctcctcctcctcctcctcc	0.463000														2			3		0	0	1	0	0
HMOX2	3163	broad.mit.edu	37	16	4557933	4557933	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:4557933G>A	uc002cwr.4	+	4	731	c.424G>A	c.(424-426)Ggg>Agg	p.G142R	HMOX2_uc010bts.3_Missense_Mutation_p.G142R|HMOX2_uc002cwq.4_Missense_Mutation_p.G142R|HMOX2_uc010btt.3_Missense_Mutation_p.G142R|HMOX2_uc002cwt.3_Missense_Mutation_p.G142R	NM_001127204	NP_002125	P30519	HMOX2_HUMAN	Homo sapiens heme oxygenase (decycling) 2 (HMOX2), transcript variant 1, mRNA.	142					cellular iron ion homeostasis|heme catabolic process|heme oxidation|response to hypoxia|transmembrane transport	endoplasmic reticulum membrane|microsome|plasma membrane	electron carrier activity|heme oxygenase (decyclizing) activity|metal ion binding|protein binding			endometrium(1)|large_intestine(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8					NADH(DB00157)	CCACTACATAGGGCAGAACGA	0.597000														28			23		0	0	1	0	0
FAM55C	91775	broad.mit.edu	37	3	101520721	101520721	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:101520721C>T	uc003dvn.3	+	4	1373	c.736C>T	c.(736-738)Ccc>Tcc	p.P246S	FAM55C_uc010hpn.3_Missense_Mutation_p.P246S	NM_145037	NP_659474	Q969Y0	FA55C_HUMAN	Homo sapiens family with sequence similarity 55, member C (FAM55C), transcript variant 2, mRNA.	246						extracellular region				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	32						CACTGGGGAGCCCTGGTTCTG	0.493000														51			25		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179582922	179582923	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:179582922_179582923CC>TT	uc021vsy.1	-	82	21303_21304	c.21078_21079GG>AA	c.(21076-21081)ctggaa>ctAAaa	p.E7027K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E3688K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7954	Ig-like 52.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCACATGTTCCAGAGGTTCAA	0.396000														26			17		0	0	1	0	0
GPRC5D	55507	broad.mit.edu	37	12	13102787	13102787	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:13102787G>A	uc010shp.2	-	0	532	c.532C>T	c.(532-534)Ctc>Ttc	p.L178F		NM_018654	NP_061124	Q9NZD1	GPC5D_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 5, member D (GPRC5D), mRNA.	178						integral to membrane|plasma membrane	G-protein coupled receptor activity			kidney(2)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		ATCAGGAAGAGGACATAGACC	0.488000														28			17		0	0	1	0	0
GPRIN1	114787	broad.mit.edu	37	5	176025340	176025340	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:176025340G>A	uc003meo.1	-	1	1671	c.1496C>T	c.(1495-1497)tCc>tTc	p.S499F	GPRIN1_uc021yif.1_Missense_Mutation_p.S499F	NM_052899	NP_443131	Q7Z2K8	GRIN1_HUMAN	Homo sapiens G protein regulated inducer of neurite outgrowth 1 (GPRIN1), mRNA.	499						growth cone|plasma membrane				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGTCCCCAAGGACCTGGGATC	0.552000														43			23		0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16918765	16918765	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:16918765G>A	uc002neu.4	+	17	4527	c.4105G>A	c.(4105-4107)Ggg>Agg	p.G1369R	NWD1_uc002net.4_Missense_Mutation_p.G1234R|NWD1_uc002nev.4_Missense_Mutation_p.G1163R|NWD1_uc021uqg.1_Missense_Mutation_p.G1234R	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	1369							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CATGACCAATGGGGACCTCTT	0.562000														113			55		0	0	1	0	0
TECPR2	9895	broad.mit.edu	37	14	102900995	102900995	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:102900995C>T	uc001ylw.2	+	8	2067	c.1841C>T	c.(1840-1842)cCc>cTc	p.P614L	TECPR2_uc010awl.3_Missense_Mutation_p.P614L|TECPR2_uc010txx.2_Intron	NM_014844	NP_055659	O15040	TCPR2_HUMAN	Homo sapiens tectonin beta-propeller repeat containing 2 (TECPR2), transcript variant 1, mRNA.	614							protein binding	p.L613V(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						ACACAGTTACCCTTCCAAGAA	0.552000														18			14		0	0	1	0	0
MYBL2	4605	broad.mit.edu	37	20	42338659	42338659	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr20:42338659C>T	uc002xlb.1	+	9	1777	c.1562C>T	c.(1561-1563)cCg>cTg	p.P521L	MYBL2_uc010zwj.1_Missense_Mutation_p.P497L	NM_002466	NP_002457	P10244	MYBB_HUMAN	Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian)-like 2 (MYBL2), mRNA.	521						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			ACGCCAACCCCGTTCAAGAAC	0.597000														165			85		0	0	1	0	0
THAP3	90326	broad.mit.edu	37	1	6688564	6688564	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:6688564C>T	uc001aoc.3	+	2	239	c.80C>T	c.(79-81)cCg>cTg	p.P27L	THAP3_uc001aod.3_Missense_Mutation_p.P27L|THAP3_uc001aoe.2_Missense_Mutation_p.P27L	NM_001195753	NP_001182682	Q8WTV1	THAP3_HUMAN	Homo sapiens THAP domain containing, apoptosis associated protein 3 (THAP3), transcript variant 3, mRNA.	27							DNA binding|metal ion binding			breast(1)|cervix(1)|large_intestine(1)|prostate(1)	4	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		CTTAGGTTTCCGTTCAGCCGC	0.597000														15			8		0	0	1	0	0
C8A	731	broad.mit.edu	37	1	57347201	57347201	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:57347201G>A	uc001cyo.2	+	4	680	c.548G>A	c.(547-549)gGg>gAg	p.G183E		NM_000562	NP_000553	P07357	CO8A_HUMAN	Homo sapiens complement component 8, alpha polypeptide (C8A), mRNA.	183	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						GTATACAATGGGGAATGGAGG	0.463000														78			29		0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178410006	178410006	+	Missense_Mutation	SNP	C	T	T	rs62638625		TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:178410006C>T	uc003mjr.3	-	8	2520	c.2341G>A	c.(2341-2343)Gag>Aag	p.E781K	GRM6_uc003mjq.3_Missense_Mutation_p.E184K	NM_000843	NP_000834	O15303	GRM6_HUMAN	Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA.	781			E -> K (in CSNB1B).		detection of visible light|visual perception	integral to plasma membrane		p.N780N(1)		NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		GGCTTGGCCTCGTTGAAGGTC	0.582000														48			29		0	0	1	0	0
CASS4	57091	broad.mit.edu	37	20	55033569	55033569	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr20:55033569C>T	uc002xxp.2	+	6	2352	c.2127C>T	c.(2125-2127)gtC>gtT	p.V709V	CASS4_uc010zze.1_Silent_p.V655V|CASS4_uc002xxr.2_Silent_p.V709V|CASS4_uc010gio.2_Silent_p.V272V	NM_001164116	NP_065089	Q9NQ75	CASS4_HUMAN	Homo sapiens Cas scaffolding protein family member 4 (CASS4), transcript variant 1, mRNA.	709					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						GCAAGCTGGTCATCATGGTGG	0.617000														75			38		0	0	1	0	0
NEDD9	4739	broad.mit.edu	37	6	11191209	11191209	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:11191209G>A	uc003mzv.2	-	4	1060	c.893C>T	c.(892-894)tCc>tTc	p.S298F	NEDD9_uc010joz.2_Missense_Mutation_p.S298F|NEDD9_uc003mzw.3_Missense_Mutation_p.S152F	NM_006403	NP_006394	Q14511	CASL_HUMAN	Homo sapiens neural precursor cell expressed, developmentally down-regulated 9 (NEDD9), transcript variant 1, mRNA.	298					actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	Golgi apparatus|cell cortex|focal adhesion|lamellipodium|nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			GTGATTCGGGGACAGGCTCTG	0.572000														57			47		0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91714867	91714867	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:91714867C>T	uc003ulg.3	+	35	9116	c.8891C>T	c.(8890-8892)cCc>cTc	p.P2964L	AKAP9_uc003ulf.3_Missense_Mutation_p.P2956L|AKAP9_uc003uli.3_Missense_Mutation_p.P2587L|AKAP9_uc003ulj.3_Missense_Mutation_p.P734L|AKAP9_uc003ulk.3_Missense_Mutation_p.P239L	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	2968					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ACTGAGTCTCCCTATAGTGAT	0.418000			T	BRAF	papillary thyroid									34			14		0	0	1	0	0
OTUD6A	139562	broad.mit.edu	37	X	69282627	69282627	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:69282627G>A	uc004dxu.1	+	0	287	c.253G>A	c.(253-255)Gaa>Aaa	p.E85K		NM_207320	NP_997203	Q7L8S5	OTU6A_HUMAN	Homo sapiens OTU domain containing 6A (OTUD6A), mRNA.	85										autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						GATGAATCTGGAAAACCGGCC	0.567000														2			7		0	0	1	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68274262	68274262	+	Missense_Mutation	SNP	A	C	C			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:68274262A>C	uc001xka.2	-	4	878	c.739T>G	c.(739-741)Tgc>Ggc	p.C247G	ZFYVE26_uc010tsz.1_Non-coding_Transcript|ZFYVE26_uc001xkc.4_Missense_Mutation_p.C247G|ZFYVE26_uc010tta.2_Missense_Mutation_p.C247G	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	Homo sapiens zinc finger, FYVE domain containing 26 (ZFYVE26), mRNA.	247					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		TCGGTCCTGCAGGCCTCTAGT	0.632000														20			7		0	0	1	0	0
ITGA5	3678	broad.mit.edu	37	12	54798505	54798505	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:54798505C>T	uc001sga.3	-	12	1467	c.1399G>A	c.(1399-1401)Gat>Aat	p.D467N	ITGA5_uc010sow.1_Non-coding_Transcript	NM_002205	NP_002196	P08648	ITA5_HUMAN	Homo sapiens integrin, alpha 5 (fibronectin receptor, alpha polypeptide) (ITGA5), mRNA.	467					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						CCATTGCCATCCAGGTCTCGG	0.572000											OREG0021554	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		51			25		0	0	1	0	0
FIBP	9158	broad.mit.edu	37	11	65651878	65651878	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:65651878G>A	uc001ogd.3	-	8	1131	c.1010C>T	c.(1009-1011)tCc>tTc	p.S337F	FIBP_uc001oge.3_Missense_Mutation_p.S330F	NM_198897	NP_942600	O43427	FIBP_HUMAN	Homo sapiens fibroblast growth factor (acidic) intracellular binding protein (FIBP), transcript variant 1, mRNA.	337					fibroblast growth factor receptor signaling pathway	endomembrane system|membrane|microsome|mitochondrion|nucleus	fibroblast growth factor binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	10				READ - Rectum adenocarcinoma(159;0.166)		GCCATCGAGGGAGTGGACAGA	0.617000											OREG0021089	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		24			13		0	0	1	0	0
AFMID	125061	broad.mit.edu	37	17	76201782	76201782	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:76201782C>T	uc002juz.3	+	8	797	c.743C>T	c.(742-744)tCc>tTc	p.S248F	AFMID_uc002jva.3_Missense_Mutation_p.S248F|AFMID_uc002jvb.3_Intron	NM_001145526	NP_001138998	Q63HM1	AFMID_HUMAN	Homo sapiens arylformamidase (AFMID), transcript variant 1, mRNA.	248						cytosol|nucleus	arylformamidase activity			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)	19			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)			CAGTTCGACTCCCCCGAATTC	0.607000														34			19		0	0	1	0	0
MMP19	4327	broad.mit.edu	37	12	56230884	56230884	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:56230884G>A	uc001sib.3	-	8	1584	c.1463C>T	c.(1462-1464)cCc>cTc	p.P488L	MMP19_uc001sia.3_Missense_Mutation_p.P202L|MMP19_uc001sid.3_Non-coding_Transcript|MMP19_uc010spw.2_3'UTR	NM_002429	NP_002420	Q99542	MMP19_HUMAN	Homo sapiens matrix metallopeptidase 19 (MMP19), transcript variant 1, mRNA.	488			P -> T (in dbSNP:rs17118042).		angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26						CGTACCTGAGGGAGTGGTATT	0.498000														165			83		0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50946101	50946101	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:50946101G>A	uc009xog.3	-	17	2524	c.2490C>T	c.(2488-2490)ttC>ttT	p.F830F	OGDHL_uc001jie.3_Silent_p.F803F|OGDHL_uc010qgt.2_Silent_p.F746F|OGDHL_uc010qgu.2_Silent_p.F594F	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	803					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	p.R829R(2)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GGCTCACCTCGAAGTCCTTGG	0.612000														137			84		0	0	1	0	0
FOXK1	221937	broad.mit.edu	37	7	4794954	4794954	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:4794954G>A	uc003snc.1	+	3	1000	c.990G>A	c.(988-990)ggG>ggA	p.G330G	FOXK1_uc003sna.1_Silent_p.G167G|FOXK1_uc003snb.1_3'UTR	NM_001037165	NP_001032242	P85037	FOXK1_HUMAN	Homo sapiens forkhead box K1 (FOXK1), mRNA.	330					cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.S329N(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		CCCTGAGCGGGATCTACGCCC	0.642000														40			36		0	0	1	0	0
OR4N2	390429	broad.mit.edu	37	14	20295638	20295638	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:20295638G>A	uc010tkv.2	+	0	31	c.31G>A	c.(31-33)Gaa>Aaa	p.E11K		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 2 (OR4N2), mRNA.	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AGTGATAAGAGAATTCATCCT	0.388000														143			50		0	0	1	0	0
POGZ	23126	broad.mit.edu	37	1	151377497	151377497	+	Silent	SNP	T	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:151377497T>A	uc001eyd.2	-	18	4329	c.4014A>T	c.(4012-4014)tcA>tcT	p.S1338S	POGZ_uc021oyq.1_Silent_p.S1285S|POGZ_uc010pdb.2_Silent_p.S1329S|POGZ_uc010pdc.2_Silent_p.S1276S|POGZ_uc009wmv.2_Silent_p.S1243S|POGZ_uc001eyf.2_Silent_p.S1294S|POGZ_uc010pdd.2_Silent_p.S829S	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	Homo sapiens pogo transposable element with ZNF domain (POGZ), transcript variant 1, mRNA.	1338					cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TTCTTGTAGGTGAGTTAATGT	0.537000											OREG0003905	type=REGULATORY REGION|Gene=POGZ|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		46			17		0	0	1	0	0
EPB41L4B	54566	broad.mit.edu	37	9	111945034	111945034	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:111945034G>A	uc004bdz.1	-	23	2757	c.2462C>T	c.(2461-2463)aCt>aTt	p.T821I		NM_019114	NP_061987	Q9H329	E41LB_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 4B (EPB41L4B), transcript variant 2, mRNA.	821						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton	p.D820D(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGTGGTGAAAGTATCAGGAAA	0.423000														97			38		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	167760287	167760287	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:167760287G>A	uc002udx.3	+	1	384	c.295G>A	c.(295-297)Gat>Aat	p.D99N	XIRP2_uc010fpn.3_Missense_Mutation_p.D99N|XIRP2_uc010fpo.3_Missense_Mutation_p.D99N	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	0					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GCTGAAGGAGGATTCCCTGAG	0.512000														36			14		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149520459	149520459	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:149520459C>T	uc010lpk.3	+	91	13268	c.13268C>T	c.(13267-13269)cCc>cTc	p.P4423L	SSPO_uc010lpm.1_Non-coding_Transcript|SSPO_uc003wgg.2_Intron|SSPO_uc003wgh.2_Non-coding_Transcript|SSPO_uc003wgi.1_Intron	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	4426					cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGCACGCCTCCCTTTGAGTTC	0.662000														179			33		0	0	1	0	0
NEXN	91624	broad.mit.edu	37	1	78392164	78392164	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:78392164G>A	uc001dic.4	+	6	852	c.555G>A	c.(553-555)atG>atA	p.M185I	NEXN_uc001dia.3_Missense_Mutation_p.M171I|NEXN_uc009wcb.1_Missense_Mutation_p.M107I|NEXN_uc001dib.4_Missense_Mutation_p.M121I|NEXN_uc001did.1_Missense_Mutation_p.M95I|NEXN_uc001dif.1_Missense_Mutation_p.M77I	NM_144573	NP_653174	Q0ZGT2	NEXN_HUMAN	Homo sapiens nexilin (F actin binding protein) (NEXN), transcript variant 1, mRNA.	185	Glu-rich.				regulation of cell migration|regulation of cytoskeleton organization	Z disc|cytoskeleton	actin filament binding|structural constituent of muscle			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		CTGGAAAAATGAAAAAGAATT	0.308000														38			8		0	0	1	0	0
GFRA3	2676	broad.mit.edu	37	5	137600165	137600165	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:137600165G>A	uc003lcn.3	-	1	304	c.164C>T	c.(163-165)cCc>cTc	p.P55L	GFRA3_uc003lco.3_Missense_Mutation_p.P55L	NM_001496	NP_001487	O60609	GFRA3_HUMAN	Homo sapiens GDNF family receptor alpha 3 (GFRA3), mRNA.	55					peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			ACTGCAGGTGGGATCAGCCTG	0.597000														28			18		0	0	1	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68170430	68170430	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:68170430G>A	uc003xxo.2	-	15	2721	c.2331C>T	c.(2329-2331)ttC>ttT	p.F777F	ARFGEF1_uc003xxl.1_Silent_p.F231F	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) (ARFGEF1), mRNA.	777	SEC7.				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	p.F777F(2)		breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GGGCTGAAACGAAGTCTTTTC	0.383000														12			43		0	0	1	0	0
DPY19L2P1	554236	broad.mit.edu	37	7	35121290	35121290	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:35121290G>A	uc003teq.1	-	21	2423	c.1316C>T	c.(1315-1317)cCc>cTc	p.P439L	DPY19L2P1_uc003tep.1_Non-coding_Transcript|DPY19L2P1_uc010kwz.1_Non-coding_Transcript					Homo sapiens dpy-19-like 2 pseudogene 1 (C. elegans) (DPY19L2P1), non-coding RNA.																		GCTACATAAGGGAGGGTTAGC	0.423000														17			8		0	0	1	0	0
SPECC1L	23384	broad.mit.edu	37	22	24718051	24718051	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr22:24718051C>T	uc002zzw.3	+	4	1406	c.1103C>T	c.(1102-1104)tCc>tTc	p.S368F	SPECC1L_uc002zzv.4_Missense_Mutation_p.S368F|SPECC1L_uc011ajq.2_Missense_Mutation_p.S368F|SPECC1L_uc021wne.1_Non-coding_Transcript	NM_015330	NP_056145	Q69YQ0	CYTSA_HUMAN	Homo sapiens sperm antigen with calponin homology and coiled-coil domains 1-like (SPECC1L), transcript variant 1, mRNA.	368					cell cycle|cell division			p.S368F(2)		breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						GCACCATCCTCCTCAGAGTCG	0.572000														34			38		0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121379428	121379428	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:121379428G>A	uc003yox.3	+	45	5361	c.5096G>A	c.(5095-5097)gGa>gAa	p.G1699E	COL14A1_uc003yoz.3_Missense_Mutation_p.G664E	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	1699	Triple-helical region 2 (COL1).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GGTATCAAAGGAGAAAAAGGA	0.368000														9			30		0	0	1	0	0
CCDC60	160777	broad.mit.edu	37	12	119866561	119866561	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:119866561G>A	uc001txe.3	+	1	629	c.164G>A	c.(163-165)cGa>cAa	p.R55Q	AF086288_uc001txf.3_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.	55										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		GACCTTATACGAAGCCGGTGA	0.478000														13			3		0	0	1	0	0
KLRC1	3821	broad.mit.edu	37	12	10600186	10600186	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:10600186G>A	uc001qyl.3	-	5	749	c.535C>T	c.(535-537)Cgt>Tgt	p.R179C	KLRC1_uc009zhm.2_Missense_Mutation_p.R179C|KLRC1_uc001qym.3_Missense_Mutation_p.R161C|KLRC1_uc001qyn.3_Missense_Mutation_p.R179C|KLRC1_uc001qyo.3_Missense_Mutation_p.R161C	NM_002259	NP_998823	P26715	NKG2A_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily C, member 1 (KLRC1), transcript variant 1, mRNA.	179	C-type lectin.				cell surface receptor linked signaling pathway|regulation of immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16						CTGCTGTTACGAAACACACCA	0.308000														61			30		0	0	1	0	0
CNTNAP3B	728577	broad.mit.edu	37	9	43709740	43709740	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:43709740C>T	uc004ada.2	+	1	586	c.176C>T	c.(175-177)tCa>tTa	p.S59L	CNTNAP3B_uc004acz.2_Non-coding_Transcript	NM_001201380	NP_001188309	Q96NU0	CNT3B_HUMAN	Homo sapiens contactin associated protein-like 3B (CNTNAP3B), mRNA.	59	F5/8 type C.				cell adhesion|signal transduction	integral to membrane	receptor binding			central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						CCGGGGTTTTCAAGGCTTAAT	0.473000														17			11		0	0	1	0	0
BC063132	0	broad.mit.edu	37	GL000241.1	25593	25593	+	RNA	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrGL000241.1:25593C>T	uc011mgv.2	-	3		c.399G>A								Homo sapiens cDNA clone IMAGE:4673444, containing frame-shift errors.																		TGTTACTGTCCACCAGATTCC	0.294000														312			28		0	0	1	0	0
ZNF30	90075	broad.mit.edu	37	19	35434348	35434348	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:35434348G>A	uc010edq.1	+	4	859	c.481G>A	c.(481-483)Gga>Aga	p.G161R	ZNF30_uc002nxf.2_Missense_Mutation_p.G79R|ZNF30_uc010edp.1_Missense_Mutation_p.G160R|ZNF30_uc010edr.1_Missense_Mutation_p.G161R	NM_001099437	NP_001092908	P17039	ZNF30_HUMAN	Homo sapiens zinc finger protein 30 (ZNF30), transcript variant 2, mRNA.	160					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		CTTTAGTAATGGACATCAACT	0.378000														25			14		0	0	1	0	0
ACSM4	341392	broad.mit.edu	37	12	7457038	7457038	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:7457038C>T	uc001qsx.1	+	0	111	c.111C>T	c.(109-111)gaC>gaT	p.D37D		NM_001080454	NP_001073923	P0C7M7	ACSM4_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 4 (ACSM4), mRNA.	37					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						CTCTTGCTGACTTTGAAGCCA	0.483000														77			24		0	0	1	0	0
OR4A5	81318	broad.mit.edu	37	11	51412371	51412371	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:51412371C>T	uc001nhi.2	-	0	78	c.25G>A	c.(25-27)Gaa>Aaa	p.E9K		NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 5 (OR4A5), mRNA.	9					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				AGGACAAATTCTGTAATATTG	0.418000														13			7		0	0	1	0	0
SLC22A15	55356	broad.mit.edu	37	1	116609685	116609685	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:116609685G>A	uc001egb.4	+	11	1730	c.1600G>A	c.(1600-1602)Gaa>Aaa	p.E534K		NM_018420	NP_060890	Q8IZD6	S22AF_HUMAN	Homo sapiens solute carrier family 22, member 15 (SLC22A15), mRNA.	534	Poly-Glu.				ion transport	integral to membrane	transmembrane transporter activity			endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		TGAGGAAGAGGAAGAATTTTA	0.428000														9			5		0	0	1	0	0
MAGEA3	4102	broad.mit.edu	37	X	151935724	151935724	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:151935724G>A	uc022chl.1	-	0	443	c.443C>T	c.(442-444)cCt>cTt	p.P148L	MAGEA3_uc004fgp.3_Missense_Mutation_p.P148L	NM_005362	NP_005353	P43357	MAGA3_HUMAN	Homo sapiens melanoma antigen family A, 3 (MAGEA3), mRNA.	148	MAGE.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					GAAGATCACAGGAAAGAAATA	0.517000														18			43		0	0	1	0	0
KLHDC8A	55220	broad.mit.edu	37	1	205308379	205308379	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:205308379G>A	uc001hcf.1	-	3	1268	c.700C>T	c.(700-702)Cgc>Tgc	p.R234C	KLHDC8A_uc010prg.1_Missense_Mutation_p.R121C|KLHDC8A_uc001hcg.1_Missense_Mutation_p.R234C	NM_018203	NP_060673	Q8IYD2	KLD8A_HUMAN	Homo sapiens kelch domain containing 8A (KLHDC8A), mRNA.	234										breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CGGTAGAGGCGACCTTGCCGC	0.597000														26			5		0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30935454	30935454	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:30935454G>A	uc002nsu.1	+	1	1123	c.985G>A	c.(985-987)Gcc>Acc	p.A329T	ZNF536_uc010edd.1_Missense_Mutation_p.A329T	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	329					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.A329D(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GGCCGAGTCGGCCCAGGGCCA	0.657000														73			50		0	0	1	0	0
CYP4F12	66002	broad.mit.edu	37	19	15807749	15807749	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:15807749G>A	uc002nbl.3	+	12	1548	c.1429G>A	c.(1429-1431)Gag>Aag	p.E477K		NM_023944	NP_076433			Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA.											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					CGCCATGGCGGAGATGAAAGT	0.622000														17			5		0	0	1	0	0
SPON1	10418	broad.mit.edu	37	11	14284316	14284316	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:14284316G>A	uc001mle.3	+	15	2320	c.2052G>A	c.(2050-2052)ggG>ggA	p.G684G		NM_006108	NP_006099	Q9HCB6	SPON1_HUMAN	Homo sapiens spondin 1, extracellular matrix protein (SPON1), mRNA.	685	TSP type-1 5.				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		AGTCATGTGGGAAAGGCCACG	0.532000														19			9		0	0	1	0	0
ATP7B	540	broad.mit.edu	37	13	52531719	52531719	+	Missense_Mutation	SNP	T	G	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr13:52531719T>G	uc001vfw.2	-	8	2537	c.2380A>C	c.(2380-2382)Aaa>Caa	p.K794Q	ATP7B_uc001vfy.2_Missense_Mutation_p.K683Q|ATP7B_uc010adv.2_Intron|ATP7B_uc001vfx.2_Missense_Mutation_p.K632Q|ATP7B_uc010tgt.1_Missense_Mutation_p.K794Q|ATP7B_uc010tgu.1_Missense_Mutation_p.K746Q|ATP7B_uc010tgv.1_Missense_Mutation_p.K716Q|ATP7B_uc001vfv.2_Missense_Mutation_p.K66Q|ATP7B_uc010tgs.1_Missense_Mutation_p.K66Q	NM_000053	NP_000044	P35670	ATP7B_HUMAN	Homo sapiens ATPase, Cu++ transporting, beta polypeptide (ATP7B), transcript variant 1, mRNA.	794					ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		GACATGAGTTTAGCCAGGGCT	0.463000									Wilson disease					51			25		0	0	1	0	0
GLB1L3	112937	broad.mit.edu	37	11	134147705	134147705	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:134147705C>T	uc009zdf.3	+	2	621	c.261C>T	c.(259-261)ttC>ttT	p.F87F	GLB1L3_uc010scs.2_Silent_p.F87F|GLB1L3_uc010sct.2_5'UTR	NM_001080407	NP_001073876	Q8NCI6	GLBL3_HUMAN	Homo sapiens galactosidase, beta 1-like 3 (GLB1L3), mRNA.	87					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		GCCACAAGTTCCTGATCTTCG	0.572000														23			10		0	0	1	0	0
BOC	91653	broad.mit.edu	37	3	112991476	112991476	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:112991476C>T	uc003dzx.3	+	6	1508	c.887C>T	c.(886-888)aCc>aTc	p.T296I	BOC_uc003dzy.3_Missense_Mutation_p.T296I|BOC_uc003dzz.3_Missense_Mutation_p.T296I|BOC_uc003eab.3_5'UTR	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	Homo sapiens Boc homolog (mouse) (BOC), mRNA.	296	Ig-like C2-type 3.				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			GACTCAGGCACCTACCGCTGC	0.607000														30			29		0	0	1	0	0
KLF3	51274	broad.mit.edu	37	4	38690577	38690577	+	Silent	SNP	C	T	T	rs140456976		TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:38690577C>T	uc003gth.4	+	2	761	c.429C>T	c.(427-429)ccC>ccT	p.P143P	KLF3_uc003gtg.2_Silent_p.P143P	NM_016531	NP_057615	P57682	KLF3_HUMAN	Homo sapiens Kruppel-like factor 3 (basic) (KLF3), mRNA.	143	Pro-rich.				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						GGATCCTGCCCGTCATCCAGC	0.617000														31			23		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13814899	13814899	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:13814899G>A	uc003jfd.2	-	42	7087	c.7045C>T	c.(7045-7047)Ctg>Ttg	p.L2349L		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2349	AAA 2 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.L2349L(2)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ACAGAATTCAGATTTTCAATC	0.393000									Kartagener syndrome					39			13		0	0	1	0	0
SLC12A5	57468	broad.mit.edu	37	20	44670039	44670039	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr20:44670039G>A	uc010zxl.1	+	7	1071	c.995G>A	c.(994-996)gGa>gAa	p.G332E	SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Missense_Mutation_p.G309E	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	332					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GCTTGGGAAGGAAATGAGACG	0.552000														50			19		0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144946973	144946973	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:144946973C>T	uc003zaa.1	-	0	462	c.449G>A	c.(448-450)tGg>tAg	p.W150*		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	150						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GACCTCCAGCCAGCTCTGCCC	0.697000														5			25		0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11630129	11630129	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:11630129C>T	uc021zzo.1	-	3	1663	c.1411G>A	c.(1411-1413)Gaa>Aaa	p.E471K	THSD7A_uc021zzn.1_Missense_Mutation_p.E471K	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA.	471	TSP type-1 4.					integral to membrane		p.E471K(2)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		AGGAGGTTTTCGTTGGCCTGC	0.522000										HNSCC(18;0.044)				37			9		0	0	1	0	0
LIPH	200879	broad.mit.edu	37	3	185232278	185232278	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:185232278C>T	uc003fpm.3	-	7	1124	c.1014G>A	c.(1012-1014)tgG>tgA	p.W338*	LIPH_uc010hyh.3_Nonsense_Mutation_p.W304*	NM_139248	NP_640341	Q8WWY8	LIPH_HUMAN	Homo sapiens lipase, member H (LIPH), mRNA.	338					lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity	p.W338L(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			CATTCTTGTTCCATGTTATAA	0.393000														51			18		0	0	1	0	0
EPG5	57724	broad.mit.edu	37	18	43440216	43440216	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr18:43440216G>A	uc002lbm.3	-	39	6962	c.6862C>T	c.(6862-6864)Ctt>Ttt	p.L2288F	EPG5_uc010xcr.1_Non-coding_Transcript|EPG5_uc010xcs.1_Non-coding_Transcript|EPG5_uc010xcq.1_Missense_Mutation_p.L842F|EPG5_uc002lbn.2_Missense_Mutation_p.L1163F	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	Homo sapiens ectopic P-granules autophagy protein 5 homolog (C. elegans) (EPG5), mRNA.	2288					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CTGCCCCGAAGGAACTCTGCT	0.567000														97			30		0	0	1	0	0
ALS2	57679	broad.mit.edu	37	2	202589065	202589065	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:202589065C>T	uc002uyo.3	-	20	3821	c.3465G>A	c.(3463-3465)tgG>tgA	p.W1155*	ALS2_uc002uyp.4_Nonsense_Mutation_p.W1155*|ALS2_uc010ftl.3_Non-coding_Transcript	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) (ALS2), transcript variant 1, mRNA.	1155					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity|protein homodimerization activity|protein serine/threonine kinase activator activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						TATCCATTACCCACTGGCCAA	0.408000														53			31		0	0	1	0	0
PNLIPRP3	119548	broad.mit.edu	37	10	118215301	118215301	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:118215301G>A	uc001lcl.4	+	4	625	c.524G>A	c.(523-525)gGg>gAg	p.G175E		NM_001011709	NP_001011709	Q17RR3	LIPR3_HUMAN	Homo sapiens pancreatic lipase-related protein 3 (PNLIPRP3), mRNA.	175					lipid catabolic process	extracellular region	triglyceride lipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		CACCTGGCTGGGGAAGCTGGG	0.423000														47			19		0	0	1	0	0
ANO9	338440	broad.mit.edu	37	11	418940	418940	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:418940C>T	uc001lpi.2	-	20	2069	c.1984G>A	c.(1984-1986)Gac>Aac	p.D662N	SIGIRR_uc001lpf.2_5'Flank|SIGIRR_uc001lpe.1_5'Flank|ANO9_uc001lph.2_Missense_Mutation_p.D355N|ANO9_uc010qvv.1_Missense_Mutation_p.D518N	NM_001012302	NP_001012302	A1A5B4	ANO9_HUMAN	Homo sapiens anoctamin 9 (ANO9), mRNA.	662						chloride channel complex	chloride channel activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						TCCTGGAAGTCCTTGGTGTGG	0.617000														120			71		0	0	1	0	0
FBXO40	51725	broad.mit.edu	37	3	121340980	121340980	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:121340980C>T	uc003eeg.2	+	2	914	c.704C>T	c.(703-705)tCa>tTa	p.S235L		NM_016298	NP_057382	Q9UH90	FBX40_HUMAN	Homo sapiens F-box protein 40 (FBXO40), mRNA.	235					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		ACAAATTCATCAGCGAGCTGT	0.463000														17			12		0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77398153	77398153	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:77398153C>T	uc002ffc.4	-	4	1323	c.904G>A	c.(904-906)Gac>Aac	p.D302N	ADAMTS18_uc010chc.1_5'Flank|ADAMTS18_uc002ffe.1_5'UTR|ADAMTS18_uc010vni.1_Non-coding_Transcript	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	302	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.A301A(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						ATTTTCTTGTCTGCCACCACG	0.478000														50			38		0	0	1	0	0
KIAA1468	57614	broad.mit.edu	37	18	59925190	59925190	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr18:59925190C>T	uc002lil.3	+	13	2121	c.1906C>T	c.(1906-1908)Cgt>Tgt	p.R636C	KIAA1468_uc002lik.1_Missense_Mutation_p.R636C|KIAA1468_uc010xel.2_Missense_Mutation_p.R636C|KIAA1468_uc002lim.3_Missense_Mutation_p.R280C	NM_020854	NP_065905	Q9P260	K1468_HUMAN	Homo sapiens KIAA1468 (KIAA1468), mRNA.	636							binding			autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				GAAAGAAATCCGTAGCTCCTT	0.333000														48			12		0	0	1	0	0
CST4	1472	broad.mit.edu	37	20	23669535	23669535	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr20:23669535C>T	uc002wto.1	-	0	128	c.72G>A	c.(70-72)aaG>aaA	p.K24K		NM_001899	NP_001890	P01036	CYTS_HUMAN	Homo sapiens cystatin S (CST4), mRNA.	24						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					TATTCTCCTCCTTGGAGCTCG	0.572000														44			18		0	0	1	0	0
PRSS1	5644	broad.mit.edu	37	7	142458470	142458470	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:142458470C>T	uc003wak.2	+	1	122	c.105C>T	c.(103-105)gtC>gtT	p.V35V	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|PRSS1_uc011ksm.1_Intron|PRSS1_uc003wam.2_5'Flank	NM_002769	NP_002760	P07477	TRY1_HUMAN	Homo sapiens protease, serine, 1 (trypsin 1) (PRSS1), mRNA.	35	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			AGAATTCTGTCCCCTACCAGG	0.527000														103			101		0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7188287	7188287	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:7188287C>T	uc003bqm.2	+	1	942	c.668C>T	c.(667-669)aCc>aTc	p.T223I	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Missense_Mutation_p.T223I|GRM7_uc003bql.2_Missense_Mutation_p.T223I	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	223					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	TATGTGTCTACCCTCGCATCG	0.527000														42			26		0	0	1	0	0
GBA	2629	broad.mit.edu	37	1	155206188	155206188	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:155206188G>A	uc001fjh.3	-	7	1238	c.1072C>T	c.(1072-1074)Cca>Tca	p.P358S	GBA_uc021pau.1_Intron|GBA_uc010pfx.2_Missense_Mutation_p.P309S|GBA_uc010pfw.2_Missense_Mutation_p.P245S|GBA_uc001fjl.3_Missense_Mutation_p.P358S|GBA_uc001fjk.3_Missense_Mutation_p.P358S|GBA_uc010pfy.2_Missense_Mutation_p.P271S	NM_000157	NP_001165282	P04062	GLCM_HUMAN	Homo sapiens glucosidase, beta, acid (GBA), transcript variant 1, mRNA.	358					carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of MAP kinase activity|negative regulation of interleukin-6 production|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Alglucerase(DB00088)|Imiglucerase(DB00053)	GCTTTGGCTGGAGCCAGAAAG	0.537000									Gaucher disease type I					31			24		0	0	1	0	0
TMPRSS4	56649	broad.mit.edu	37	11	117982457	117982457	+	Splice_Site	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:117982457C>T	uc021qrd.1	+	8	875	c.584_splice	c.e8-1	p.A195_splice	TMPRSS4_uc009yzu.3_Splice_Site|TMPRSS4_uc021qre.1_Splice_Site_p.A190_splice|TMPRSS4_uc010rxo.2_Splice_Site_p.A193_splice|TMPRSS4_uc010rxs.2_Splice_Site_p.A155_splice|TMPRSS4_uc010rxq.2_Splice_Site_p.A48_splice|TMPRSS4_uc010rxr.2_Splice_Site_p.A170_splice|TMPRSS4_uc010rxt.2_Splice_Site_p.A170_splice	NM_019894	NP_063947	Q9NRS4	TMPS4_HUMAN	Homo sapiens transmembrane protease, serine 4 (TMPRSS4), transcript variant 1, mRNA.	195	SRCR.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)		TGTGTCCAGCCTGTGGGAAGA	0.607000														14			7		0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28821586	28821586	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:28821586G>A	uc002rmb.2	+	34	2477	c.2433G>A	c.(2431-2433)acG>acA	p.T811T	PLB1_uc010ezj.2_Silent_p.T800T	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA.	811	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CCAATGACACGAATGCATTCC	0.542000														118			43		0	0	1	0	0
ZNF414	84330	broad.mit.edu	37	19	8576415	8576415	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:8576415C>T	uc002mke.4	-	5	998	c.880G>A	c.(880-882)Ggc>Agc	p.G294S	ZNF414_uc010dwf.3_Missense_Mutation_p.G283S|ZNF414_uc002mkf.3_Missense_Mutation_p.G294S	NM_001146175	NP_001139647	Q96IQ9	ZN414_HUMAN	Homo sapiens zinc finger protein 414 (ZNF414), transcript variant 1, mRNA.	294					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			lung(2)	2						GGGCTGCTGCCAGCACCTGCG	0.687000														8			3		0	0	1	0	0
OR2A2	442361	broad.mit.edu	37	7	143807098	143807098	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:143807098G>A	uc011ktz.2	+	0	423	c.423G>A	c.(421-423)acG>acA	p.T141T		NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 2 (OR2A2), mRNA.	141					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T141T(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					GAGTGTGCACGATCCTGGTTC	0.522000														118			28		0	0	1	0	0
METTL2A	339175	broad.mit.edu	37	17	60503872	60503872	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:60503872G>A	uc002izv.2	+	2	433	c.415G>A	c.(415-417)Gaa>Aaa	p.E139K	METTL2A_uc002izw.3_Missense_Mutation_p.E3K	NM_181725	NP_859076	Q96IZ6	MTL2A_HUMAN	Homo sapiens methyltransferase like 2A (METTL2A), mRNA.	139							methyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|upper_aerodigestive_tract(2)	6			BRCA - Breast invasive adenocarcinoma(2;1.08e-10)			AATAATGGAAGAACAGCACAA	0.388000														23			12		0	0	1	0	0
ZFP112	7771	broad.mit.edu	37	19	44832440	44832440	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:44832440C>T	uc010xwy.2	-	4	2057	c.1939G>A	c.(1939-1941)Gtc>Atc	p.V647I	ZFP112_uc010ejj.3_Missense_Mutation_p.V630I|ZFP112_uc002ozc.4_Missense_Mutation_p.V624I|ZFP112_uc010xwz.2_Missense_Mutation_p.V629I	NM_013380	NP_037512	Q9UJU3	ZF112_HUMAN	Homo sapiens zinc finger protein 112 homolog (mouse) (ZFP112), transcript variant 2, mRNA.	630					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(1)|lung(8)|ovary(3)|prostate(4)|skin(3)	41						CCAGTGTGGACTCTCTGATGG	0.463000														108			64		0	0	1	0	0
BMP5	653	broad.mit.edu	37	6	55739228	55739228	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:55739228G>A	uc003pcq.3	-	0	1148	c.436C>T	c.(436-438)Cat>Tat	p.H146Y	BMP5_uc011dxf.2_Missense_Mutation_p.H146Y	NM_021073	NP_066551	P22003	BMP5_HUMAN	Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA.	146					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			TTGGTATCATGGAGGCTGGCT	0.448000														56			82		0	0	1	0	0
ZNF804B	219578	broad.mit.edu	37	7	88965039	88965039	+	Missense_Mutation	SNP	A	C	C			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:88965039A>C	uc011khi.2	+	3	3281	c.2743A>C	c.(2743-2745)Act>Cct	p.T915P		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	Homo sapiens zinc finger protein 804B (ZNF804B), mRNA.	915			T -> I (in dbSNP:rs56948780).			intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AGAATCAAACACTGCAGAAGG	0.433000										HNSCC(36;0.09)				51			39		0	0	1	0	0
SPAG5	10615	broad.mit.edu	37	17	26918806	26918806	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:26918806G>A	uc002hbq.3	-	3	1439	c.1347C>T	c.(1345-1347)tcC>tcT	p.S449S	SPAG5_uc010waq.1_Intron	NM_006461	NP_006452	Q96R06	SPAG5_HUMAN	Homo sapiens sperm associated antigen 5 (SPAG5), mRNA.	449					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					GAAGCTGGCGGGAGAGAACCT	0.552000														79			3		0	0	1	0	0
ACTR1A	10121	broad.mit.edu	37	10	104242787	104242787	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:104242787G>A	uc001kvv.3	-	6	839	c.731C>T	c.(730-732)cCt>cTt	p.P244L	ACTR1A_uc010qqn.2_Missense_Mutation_p.P170L|ACTR1A_uc010qqo.2_Missense_Mutation_p.P197L	NM_005736	NP_005727	P61163	ACTZ_HUMAN	Homo sapiens ARP1 actin-related protein 1 homolog A, centractin alpha (yeast) (ACTR1A), mRNA.	244					G2/M transition of mitotic cell cycle|vesicle-mediated transport	centrosome|cytosol|dynactin complex	ATP binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	13		Colorectal(252;0.122)		Epithelial(162;5.34e-09)|all cancers(201;1.43e-07)|BRCA - Breast invasive adenocarcinoma(275;0.222)		GCTGCCATCAGGCAGGTAGTA	0.527000														99			48		0	0	1	0	0
B4GALT5	9334	broad.mit.edu	37	20	48263558	48263558	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr20:48263558G>A	uc002xuu.4	-	2	502	c.308C>T	c.(307-309)cCt>cTt	p.P103L		NM_004776	NP_004767	O43286	B4GT5_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5 (B4GALT5), mRNA.	103					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	galactosyltransferase activity|metal ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20			BRCA - Breast invasive adenocarcinoma(9;2.51e-06)			GAAGTCTTCAGGAAGAAATGT	0.438000														91			41		0	0	1	0	0
OR52J3	119679	broad.mit.edu	37	11	5068609	5068609	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:5068609C>T	uc010qyv.2	+	0	854	c.854C>T	c.(853-855)cCa>cTa	p.P285L		NM_001001916	NP_001001916	Q8NH60	O52J3_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily J, member 3 (OR52J3), mRNA.	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTGATTATCCCACCCTCTCTC	0.383000														40			22		0	0	1	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16838865	16838865	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:16838865G>A	uc010rcu.1	-	10	1363	c.1348C>T	c.(1348-1350)Ccc>Tcc	p.P450S	PLEKHA7_uc001mmo.3_Missense_Mutation_p.P450S|PLEKHA7_uc010rcv.2_Missense_Mutation_p.P24S|PLEKHA7_uc001mmn.3_Missense_Mutation_p.P158S	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 7 (PLEKHA7), mRNA.	450					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						TGGTCCAAGGGAAGACTGAGG	0.572000														23			20		0	0	1	0	0
ZNF44	51710	broad.mit.edu	37	19	12383821	12383821	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:12383821C>T	uc010xmj.2	-	4	1598	c.1393G>A	c.(1393-1395)Gga>Aga	p.G465R	ZNF44_uc002mtl.3_Intron|ZNF44_uc010xmi.2_Non-coding_Transcript|ZNF44_uc002mtn.4_Non-coding_Transcript|ZNF44_uc010dys.3_Missense_Mutation_p.G417R	NM_001164276	NP_001157748	P15621	ZNF44_HUMAN	Homo sapiens zinc finger protein 44 (ZNF44), transcript variant 1, mRNA.	465					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		GGTTTCTCTCCAGTGTGAGTC	0.448000														41			14		0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65234520	65234520	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:65234520G>A	uc001xht.3	-	28	6131	c.6080C>T	c.(6079-6081)gCc>gTc	p.A2027V	SPTB_uc001xhr.3_Missense_Mutation_p.A2027V|SPTB_uc001xhs.3_Missense_Mutation_p.A2027V|SPTB_uc001xhu.3_Missense_Mutation_p.A2027V|SPTB_uc010aqi.3_Missense_Mutation_p.A688V	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	2027					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GGGCTCCTGGGCAATCAGCCA	0.622000														36			22		0	0	1	0	0
SDR42E1	93517	broad.mit.edu	37	16	82033251	82033251	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:82033251G>A	uc002fgu.3	-	2	775	c.647C>T	c.(646-648)cCc>cTc	p.P216L		NM_145168	NP_660151	Q8WUS8	D42E1_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 42E, member 1 (SDR42E1), mRNA.	216					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding			NS(2)|endometrium(1)|lung(4)|skin(3)	10						CAGGCTCCTGGGGTCCCCGTA	0.552000														94			38		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9047148	9047148	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:9047148G>A	uc002mkp.3	-	4	34687	c.34483C>T	c.(34483-34485)Cct>Tct	p.P11495S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11497	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTCTCTGCAGGATGAATGAGC	0.512000														66			35		0	0	1	0	0
ZNF417	147687	broad.mit.edu	37	19	58420091	58420091	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:58420091G>A	uc002qqq.3	-	2	1754	c.1555C>T	c.(1555-1557)Cct>Tct	p.P519S	ZNF417_uc010yhm.2_Missense_Mutation_p.P476S|ZNF417_uc002qqr.3_Missense_Mutation_p.P518S	NM_152475	NP_689688	Q8TAU3	ZN417_HUMAN	Homo sapiens zinc finger protein 417 (ZNF417), mRNA.	519					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		CACTTATAAGGCTTTTGTCCA	0.403000														66			22		0	0	1	0	0
ZNF440	126070	broad.mit.edu	37	19	11942924	11942924	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:11942924C>T	uc002msp.1	+	3	1089	c.933C>T	c.(931-933)ctC>ctT	p.L311L	ZNF440_uc021upk.1_5'Flank	NM_152357	NP_689570	Q8IYI8	ZN440_HUMAN	Homo sapiens zinc finger protein 440 (ZNF440), mRNA.	311					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GGAAAAATCTCTATGAATGTA	0.388000														60			33		0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48335321	48335322	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:48335321_48335322CC>TT	uc003toq.2	+	20	9004_9005	c.8980_8981CC>TT	c.(8980-8982)ccg>TTg	p.P2994L	ABCA13_uc010kys.1_Missense_Mutation_p.P68L	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	2994					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ATGGTCCTCGCCGAATCAGCTA	0.391000														39			16		0	0	1	0	0
C7	730	broad.mit.edu	37	5	40947807	40947807	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:40947807C>T	uc003jmh.3	+	7	956	c.842C>T	c.(841-843)tCc>tTc	p.S281F	C7_uc011cpn.1_Intron	NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	281	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				AAGGAGCTTTCCCACCTCCCC	0.448000														28			16		0	0	1	0	0
CPN2	1370	broad.mit.edu	37	3	194062446	194062446	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:194062446G>A	uc003fts.3	-	1	1076	c.986C>T	c.(985-987)cCa>cTa	p.P329L	CPN2_uc021xix.1_Missense_Mutation_p.P329L	NM_001080513	NP_001073982	P22792	CPN2_HUMAN	Homo sapiens carboxypeptidase N, polypeptide 2 (CPN2), mRNA.	329					protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		GATGCCAGCTGGGAGGTGGGT	0.572000														31			18		0	0	1	0	0
ANKRD20A11P	391267	broad.mit.edu	37	21	15352118	15352118	+	RNA	SNP	C	G	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr21:15352118C>G	uc002yji.2	-	0		c.648G>C			ANKRD20A11P_uc002yjj.4_Non-coding_Transcript					Homo sapiens ankyrin repeat domain 20 family, member A11, pseudogene (ANKRD20A11P), non-coding RNA.																		CCTTGTGGATCTTCTGCAGTT	0.642000														15			4		0	0	1	0	0
CRYGS	1427	broad.mit.edu	37	3	186256671	186256671	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:186256671G>A	uc003fqe.3	-	2	403	c.351C>T	c.(349-351)tcC>tcT	p.S117S		NM_017541	NP_060011	P22914	CRBS_HUMAN	Homo sapiens crystallin, gamma S (CRYGS), mRNA.	117	Beta/gamma crystallin 'Greek key' 3.						structural constituent of eye lens			endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	11	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.5e-22)	GBM - Glioblastoma multiforme(93;0.0906)		GCTCCATGATGGAAGGGCAAT	0.478000														26			20		0	0	1	0	0
TMEM102	284114	broad.mit.edu	37	17	7340653	7340653	+	Missense_Mutation	SNP	A	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:7340653A>T	uc002ggx.1	+	2	1628	c.1355A>T	c.(1354-1356)cAc>cTc	p.H452L	SPEM1_uc010vtw.1_Intron|TMEM102_uc002ggy.2_Missense_Mutation_p.H452L|FGF11_uc010cmh.1_5'Flank|FGF11_uc010cmi.3_5'Flank|FGF11_uc002ggz.3_5'Flank	NM_178518	NP_848613	Q8N9M5	TM102_HUMAN	Homo sapiens transmembrane protein 102 (TMEM102), mRNA.	452					regulation of apoptosis|response to cytokine stimulus|signal transduction	cell surface|integral to membrane|intracellular	protein binding			kidney(1)|lung(3)|skin(1)	5		Prostate(122;0.173)				ACGTTGCCTCACTATTTTCTG	0.706000														16			4		0	0	1	0	0
KCTD16	57528	broad.mit.edu	37	5	143853624	143853624	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:143853624C>T	uc003lnm.1	+	3	1863	c.1234C>T	c.(1234-1236)Cct>Tct	p.P412S	KCTD16_uc003lnn.1_Missense_Mutation_p.P412S	NM_020768	NP_065819	Q68DU8	KCD16_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 16 (KCTD16), mRNA.	412						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			AGATCGGTTTCCTGAGAGAAA	0.378000														55			20		0	0	1	0	0
MATN4	8785	broad.mit.edu	37	20	43933302	43933302	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr20:43933302G>A	uc002xnn.2	-	2	396	c.209C>T	c.(208-210)gCc>gTc	p.A70V	MATN4_uc002xnp.2_Missense_Mutation_p.A70V|MATN4_uc002xno.2_Missense_Mutation_p.A70V|MATN4_uc010zwr.1_Missense_Mutation_p.A18V|MATN4_uc002xnr.1_Missense_Mutation_p.A70V|RBPJL_uc002xns.3_5'Flank|RBPJL_uc002xnt.3_5'Flank	NM_003833	NP_003824	O95460	MATN4_HUMAN	Homo sapiens matrilin 4 (MATN4), transcript variant 1, mRNA.	70	VWFA 1.					extracellular region	protein binding	p.N69fs*3(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				AACGCGCGTGGCGTTGGGACC	0.642000														19			10		0	0	1	0	0
SPDEF	25803	broad.mit.edu	37	6	34512051	34512051	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:34512051G>A	uc003ojq.2	-	1	616	c.182C>T	c.(181-183)tCc>tTc	p.S61F	SPDEF_uc011dsq.2_Missense_Mutation_p.S61F	NM_012391	NP_036523	O95238	SPDEF_HUMAN	Homo sapiens SAM pointed domain containing ets transcription factor (SPDEF), transcript variant 1, mRNA.	61					negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)	15						GTCAAAGTAGGAGAGGTAGAA	0.677000														35			46		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75078455	75078455	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:75078455G>A	uc001dgg.3	-	8	1258	c.1039C>T	c.(1039-1041)Ccc>Tcc	p.P347S	CR627203_uc001dgh.3_Intron|C1orf173_uc001dgi.4_Missense_Mutation_p.P141S	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	347								p.P347H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						AGACTGAAGGGGAAACCATGA	0.413000														23			8		0	0	1	0	0
SLC38A11	151258	broad.mit.edu	37	2	165772482	165772482	+	Splice_Site	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:165772482G>A	uc002ucw.2	-	7	781	c.450_splice	c.e7-1	p.I150_splice	SLC38A11_uc002ucu.2_Splice_Site_p.I128_splice|SLC38A11_uc002ucv.2_Splice_Site_p.I150_splice	NM_001199148	NP_001186077	Q08AI6	S38AB_HUMAN	Homo sapiens solute carrier family 38, member 11 (SLC38A11), transcript variant 1, mRNA.	150					amino acid transport|sodium ion transport	integral to membrane				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						TCTGTTTTTGGTCTAGAAGAA	0.358000														81			40		0	0	1	0	0
POU2F3	25833	broad.mit.edu	37	11	120180188	120180188	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:120180188G>A	uc021qrk.1	+	9	1001	c.967G>A	c.(967-969)Gag>Aag	p.E323K	POU2F3_uc001pxc.3_Missense_Mutation_p.E321K|POU2F3_uc010rzk.2_Missense_Mutation_p.E275K|POU2F3_uc010rzl.2_Missense_Mutation_p.E251K|POU2F3_uc001pxe.1_Missense_Mutation_p.E106K	NM_001244682	NP_001231611	Q9UKI9	PO2F3_HUMAN	Homo sapiens POU class 2 homeobox 3 (POU2F3), transcript variant 2, mRNA.	321					negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding			large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		GTTGTCCATGGAGAAGGAGGT	0.532000														27			20		0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21529786	21529786	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr18:21529786C>T	uc002kuq.3	+	70	9495	c.9409C>T	c.(9409-9411)Ccc>Tcc	p.P3137S	LAMA3_uc002kur.3_Missense_Mutation_p.P3081S|LAMA3_uc002kus.4_Missense_Mutation_p.P1528S|LAMA3_uc002kut.4_Missense_Mutation_p.P1472S	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	3137	Laminin G-like 4.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGATTCAAAACCCTTGTATAC	0.473000														33			11		0	0	1	0	0
MST1P9	11223	broad.mit.edu	37	1	17085457	17085457	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:17085457C>T	uc010ock.2	-	9	1234	c.1234G>A	c.(1234-1236)Gat>Aat	p.D412N	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_5'UTR					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.											breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						GGAGCAAAATCGTGGCAGGGT	0.617000														54			4		0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28233882	28233882	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:28233882G>A	uc009xky.3	-	10	1494	c.1396C>T	c.(1396-1398)Caa>Taa	p.Q466*	ARMC4_uc010qds.2_5'UTR|ARMC4_uc010qdt.2_Nonsense_Mutation_p.Q158*|ARMC4_uc001itz.3_Nonsense_Mutation_p.Q466*|ARMC4_uc010qdu.1_Nonsense_Mutation_p.Q158*	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	466							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						GTAGCTGTTTGATTTCCTCCC	0.448000														47			22		0	0	1	0	0
SOGA2	23255	broad.mit.edu	37	18	8825195	8825195	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr18:8825195C>T	uc002knr.2	+	14	3829	c.3687C>T	c.(3685-3687)ggC>ggT	p.G1229G	SOGA2_uc002knq.2_Silent_p.G1188G|SOGA2_uc002kns.2_Silent_p.G569G	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	Homo sapiens coiled-coil domain containing 165 (CCDC165), mRNA.	1539																	CCAAGGGAGGCCCTCCAGAAC	0.677000														19			16		0	0	1	0	0
CUX1	1523	broad.mit.edu	37	7	101821817	101821817	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:101821817C>T	uc003uys.4	+	10	1057	c.930C>T	c.(928-930)atC>atT	p.I310I	CUX1_uc003uyw.3_Silent_p.I264I|CUX1_uc003uyv.3_Silent_p.I294I|CUX1_uc003uyt.3_Silent_p.I310I|CUX1_uc003uyu.3_Silent_p.I308I|CUX1_uc011kkn.2_Silent_p.I271I|CUX1_uc003uyx.4_Silent_p.I299I	NM_001202543	NP_001189472	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA.	299					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						AGCGGGAGATCGCACAGCTGG	0.607000														15			6		0	0	1	0	0
HJURP	55355	broad.mit.edu	37	2	234749661	234749661	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:234749661G>A	uc002vvg.3	-	7	1831	c.1765C>T	c.(1765-1767)Caa>Taa	p.Q589*	HJURP_uc010znd.2_Nonsense_Mutation_p.Q528*|HJURP_uc010zne.2_Nonsense_Mutation_p.Q497*	NM_018410	NP_060880	Q8NCD3	HJURP_HUMAN	Homo sapiens Holliday junction recognition protein (HJURP), mRNA.	589					CenH3-containing nucleosome assembly at centromere|cell cycle|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding	p.Q589*(2)		NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		CAATACTTTTGATGAAGCTTG	0.413000														45			21		0	0	1	0	0
HNRNPKP3	399881	broad.mit.edu	37	11	43284481	43284481	+	RNA	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:43284481C>T	uc001mxe.1	-	1		c.455G>A								Homo sapiens heterogeneous nuclear ribonucleoprotein K pseudogene 3 (HNRNPKP3), non-coding RNA.																		AAGAACAACTCCGTCAGTGGA	0.398000														14			6		0	0	1	0	0
SAMD15	161394	broad.mit.edu	37	14	77844570	77844570	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:77844570G>A	uc001xtq.1	+	0	809	c.809G>A	c.(808-810)aGa>aAa	p.R270K	TMED8_uc001xto.1_5'Flank|SAMD15_uc021rwt.1_Missense_Mutation_p.R270K	NM_001010860	NP_001010860	Q9P1V8	SAM15_HUMAN	Homo sapiens sterile alpha motif domain containing 15 (SAMD15), mRNA.	270										breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AAGGAACCAAGAAAGTCTAGT	0.498000														43			19		0	0	1	0	0
ADAM12	8038	broad.mit.edu	37	10	127753391	127753391	+	Silent	SNP	G	C	C			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:127753391G>C	uc001ljk.2	-	13	2015	c.1602C>G	c.(1600-1602)gtC>gtG	p.V534V	ADAM12_uc010qul.1_Silent_p.V485V|ADAM12_uc001ljm.3_Silent_p.V534V|ADAM12_uc001ljn.3_Silent_p.V531V|ADAM12_uc001ljl.4_Silent_p.V531V	NM_003474	NP_003465	O43184	ADA12_HUMAN	Homo sapiens ADAM metallopeptidase domain 12 (ADAM12), transcript variant 1, mRNA.	534	Cys-rich.				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	SH3 domain binding|metalloendopeptidase activity|protein binding|zinc ion binding			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		CCCAGAGCGTGACACACTGCT	0.607000														13			4		0	0	1	0	0
HINFP	25988	broad.mit.edu	37	11	119002249	119002249	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:119002249C>T	uc001pvp.3	+	4	660	c.416C>T	c.(415-417)tCc>tTc	p.S139F	HINFP_uc021qrj.1_Missense_Mutation_p.S139F|HINFP_uc001pvq.3_Missense_Mutation_p.S139F|HINFP_uc001pvr.3_5'UTR	NM_015517	NP_945322	Q9BQA5	HINFP_HUMAN	Homo sapiens histone H4 transcription factor (HINFP), transcript variant 1, mRNA.	139					DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GCACAGAATTCCTTCGACAAT	0.537000														67			29		0	0	1	0	0
TCRA	0	broad.mit.edu	37	14	22476272	22476272	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:22476272C>T	uc001wcu.4	+	1	306	c.208C>T	c.(208-210)Ctt>Ttt	p.L70F	TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc021rpn.1_Missense_Mutation_p.L70F|TCRA_uc010tmm.2_Intron|TCRA_uc001wct.4_3'UTR					RecName: Full=T-cell receptor alpha chain V region HPB-MLT; Flags: Precursor; Fragment;																		ATTGGTTTTCCTTATTCGTCG	0.423000														15			6		0	0	1	0	0
GALE	2582	broad.mit.edu	37	1	24122730	24122730	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:24122730C>T	uc009vqo.1	-	9	1109	c.899G>A	c.(898-900)cGg>cAg	p.R300Q	GALE_uc001bhv.1_Missense_Mutation_p.R300Q|GALE_uc001bhx.1_Missense_Mutation_p.R300Q|GALE_uc001bhz.1_Missense_Mutation_p.R226Q	NM_001127621	NP_001121093	Q14376	GALE_HUMAN	Homo sapiens UDP-galactose-4-epimerase (GALE), transcript variant 3, mRNA.	300					galactose catabolic process	cytosol	UDP-glucose 4-epimerase activity|coenzyme binding|protein homodimerization activity			endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		ATCACCTTCCCGCCGTGCCAC	0.622000														43			21		0	0	1	0	0
SUOX	6821	broad.mit.edu	37	12	56397910	56397910	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:56397910C>T	uc001six.3	+	5	1063	c.737C>T	c.(736-738)tCc>tTc	p.S246F	SUOX_uc001siy.3_Missense_Mutation_p.S246F|SUOX_uc001siz.3_Missense_Mutation_p.S246F|SUOX_uc001sja.3_Missense_Mutation_p.S246F	NM_000456	NP_001027559	P51687	SUOX_HUMAN	Homo sapiens sulfite oxidase (SUOX), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	246	Molybdenum-pterin domain (By similarity).					mitochondrial intermembrane space	electron carrier activity|molybdenum ion binding|sulfite oxidase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			CTGTCTCTTTCCCTGGATGAC	0.517000														49			18		0	0	1	0	0
GRIK4	2900	broad.mit.edu	37	11	120833254	120833254	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:120833254C>T	uc001pxn.2	+	17	2417	c.2130C>T	c.(2128-2130)atC>atT	p.I710I	GRIK4_uc009zav.1_Silent_p.I710I|GRIK4_uc009zaw.1_Silent_p.I710I|GRIK4_uc009zax.1_Silent_p.I710I	NM_014619	NP_055434	Q16099	GRIK4_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 4 (GRIK4), mRNA.	710					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	AGGAGGGAATCGCCAGGGTGT	0.527000														40			24		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126329707	126329707	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:126329707C>T	uc003ifj.4	+	3	5678	c.5678C>T	c.(5677-5679)cCt>cTt	p.P1893L	FAT4_uc011cgp.2_Missense_Mutation_p.P191L	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	1893	Cadherin 18.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TTCCTGAATCCTATTACTGGG	0.378000														60			24		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13922323	13922323	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:13922323C>T	uc003jfd.2	-	4	595	c.553G>A	c.(553-555)Gag>Aag	p.E185K	DNAH5_uc003jfe.1_Non-coding_Transcript	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	185	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCCTCGAGCTCGCCCCAGCCA	0.572000									Kartagener syndrome					33			15		0	0	1	0	0
FCGR3B	2215	broad.mit.edu	37	1	161596163	161596163	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:161596163C>T	uc009wul.3	-	3	717	c.457G>A	c.(457-459)Gtg>Atg	p.V153M	FCGR3B_uc021pdo.1_Missense_Mutation_p.V117M	NM_001244753	NP_001231682	O75015	FCG3B_HUMAN	Homo sapiens Fc fragment of IgG, low affinity IIIb, receptor (CD16b) (FCGR3B), transcript variant 1, mRNA.	117	Ig-like C2-type 2.				immune response	anchored to membrane|extracellular region|plasma membrane	IgG binding|receptor activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	18	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TCCTTGAACACCCACCGAGGG	0.552000														2			9		0	0	1	0	0
ZNF287	57336	broad.mit.edu	37	17	16456476	16456476	+	Missense_Mutation	SNP	A	G	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:16456476A>G	uc021trd.1	-	5	1598	c.980T>C	c.(979-981)cTa>cCa	p.L327P	ZNF287_uc002gqi.2_Missense_Mutation_p.L327P	NM_020653	NP_065704	Q9HBT7	ZN287_HUMAN	Homo sapiens zinc finger protein 287 (ZNF287), mRNA.	320					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		CTGTACAATTAGGTTTGAATG	0.303000														20			17		0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31769975	31769975	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:31769975C>T	uc002nsy.4	-	1	789	c.724G>A	c.(724-726)Gac>Aac	p.D242N		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	Homo sapiens teashirt zinc finger homeobox 3 (TSHZ3), mRNA.	242					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TCATGGTTGTCGTCGCGGTAA	0.592000														135			67		0	0	1	0	0
C1S	716	broad.mit.edu	37	12	7177809	7177809	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:7177809C>T	uc001qsj.3	+	14	2640	c.1921C>T	c.(1921-1923)Ccc>Tcc	p.P641S	C1S_uc001qsk.3_Missense_Mutation_p.P641S|C1S_uc001qsl.3_Missense_Mutation_p.P641S|C1S_uc009zfr.3_Missense_Mutation_p.P474S|C1S_uc009zfs.3_Non-coding_Transcript	NM_201442	NP_958850	P09871	C1S_HUMAN	Homo sapiens complement component 1, s subcomponent (C1S), transcript variant 1, mRNA.	641	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TGTACAGGATCCCAATGACAA	0.532000														90			56		0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10906979	10906979	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr21:10906979G>A	uc002yip.1	-	23	1950	c.1582C>T	c.(1582-1584)Cca>Tca	p.P528S	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.P510S|TPTE_uc002yir.1_Missense_Mutation_p.P490S|TPTE_uc010gkv.1_Missense_Mutation_p.P390S	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	528	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.D527N(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAATCTGATGGATAAATTCTC	0.368000														74			12		0	0	1	0	0
PDE9A	5152	broad.mit.edu	37	21	44180998	44180998	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr21:44180998C>T	uc002zbm.3	+	12	1129	c.1066C>T	c.(1066-1068)Cat>Tat	p.H356Y	PDE9A_uc002zbn.3_Missense_Mutation_p.H229Y|PDE9A_uc002zbo.3_Missense_Mutation_p.H303Y|PDE9A_uc002zbp.3_Missense_Mutation_p.H149Y|PDE9A_uc002zbq.3_Missense_Mutation_p.H254Y|PDE9A_uc002zbs.3_Missense_Mutation_p.H149Y|PDE9A_uc002zbr.3_Missense_Mutation_p.H149Y|PDE9A_uc002zbt.3_Missense_Mutation_p.H228Y|PDE9A_uc002zbu.3_Missense_Mutation_p.H222Y|PDE9A_uc002zbv.3_Missense_Mutation_p.H196Y|PDE9A_uc002zbw.3_Missense_Mutation_p.H139Y|PDE9A_uc002zbx.3_Missense_Mutation_p.H296Y|PDE9A_uc002zby.3_Missense_Mutation_p.H139Y|PDE9A_uc002zbz.3_Missense_Mutation_p.H248Y|PDE9A_uc002zca.3_Missense_Mutation_p.H315Y|PDE9A_uc002zcb.3_Missense_Mutation_p.H330Y|PDE9A_uc002zcc.3_Missense_Mutation_p.H255Y|PDE9A_uc002zcd.3_Missense_Mutation_p.H270Y|PDE9A_uc002zce.3_Missense_Mutation_p.H289Y|PDE9A_uc002zcf.3_Missense_Mutation_p.H149Y|PDE9A_uc002zcg.3_Missense_Mutation_p.H149Y|PDE9A_uc010gpf.1_Missense_Mutation_p.H149Y	NM_002606	NP_001001585	O76083	PDE9A_HUMAN	Homo sapiens phosphodiesterase 9A (PDE9A), transcript variant 1, mRNA.	356	Catalytic (By similarity).				platelet activation|signal transduction	Golgi apparatus|cytosol|endoplasmic reticulum|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						CGATCTGGACCATCCCGGCTA	0.493000														42			19		0	0	1	0	0
FZD5	7855	broad.mit.edu	37	2	208632225	208632225	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:208632225C>T	uc021vvr.1	-	0	1239	c.1239G>A	c.(1237-1239)ctG>ctA	p.L413L	FZD5_uc002vcj.3_Silent_p.L413L	NM_003468	NP_003459	Q13467	FZD5_HUMAN	Homo sapiens frizzled family receptor 5 (FZD5), mRNA.	413					Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway involved in dorsal/ventral axis specification|angiogenesis|anterior/posterior axis specification, embryo|axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to molecule of bacterial origin|embryonic camera-type eye development|gonad development|labyrinthine layer blood vessel development|positive regulation of interferon-gamma production|positive regulation of transcription from RNA polymerase II promoter|post-embryonic camera-type eye development	Golgi membrane|cell projection|cell surface|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding|protein kinase binding			NS(1)|kidney(1)|lung(1)|ovary(2)|prostate(1)|skin(1)	7				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134)		GCGTGCCCACCAGCAGGTAGA	0.662000														19			11		0	0	1	0	0
UBE2O	63893	broad.mit.edu	37	17	74396354	74396354	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:74396354G>A	uc002jrm.4	-	7	1094	c.1029C>T	c.(1027-1029)gaC>gaT	p.D343D	UBE2O_uc002jrn.4_Silent_p.D343D|UBE2O_uc002jrl.4_5'Flank	NM_022066	NP_071349	Q9C0C9	UBE2O_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2O (UBE2O), mRNA.	343							ATP binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						GCTGAGCATGGTCAAAGCATC	0.592000														36			15		0	0	1	0	0
C7orf45	136263	broad.mit.edu	37	7	129856227	129856227	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:129856227C>T	uc003vpp.3	+	2	699	c.652C>T	c.(652-654)Cct>Tct	p.P218S		NM_145268	NP_660311	Q8WWF3	CG045_HUMAN	Homo sapiens chromosome 7 open reading frame 45 (C7orf45), mRNA.	218						integral to membrane				endometrium(2)|kidney(1)|lung(6)|ovary(1)	10	Melanoma(18;0.0435)					CCGACAGAAGCCTTCAGTAAC	0.428000														278			67		0	0	1	0	0
FAM171B	165215	broad.mit.edu	37	2	187627452	187627452	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:187627452C>T	uc002ups.3	+	7	2495	c.2383C>T	c.(2383-2385)Ccc>Tcc	p.P795S	FAM171B_uc002upr.1_Missense_Mutation_p.P762S|FAM171B_uc002upt.3_Missense_Mutation_p.P264S	NM_177454	NP_803237	Q6P995	F171B_HUMAN	Homo sapiens family with sequence similarity 171, member B (FAM171B), mRNA.	795						integral to membrane	DNA binding			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TAATACATCCCCCACTAAAAG	0.478000														14			17		0	0	1	0	0
TERT	7015	broad.mit.edu	37	5	1280382	1280382	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:1280382G>A	uc003jcb.1	-	3	1899	c.1841C>T	c.(1840-1842)cCc>cTc	p.P614L	TERT_uc003jbz.1_5'UTR|TERT_uc003jcc.1_Missense_Mutation_p.P614L|TERT_uc003jca.1_Missense_Mutation_p.P614L|TERT_uc003jcd.1_Non-coding_Transcript|TERT_uc003jce.1_Non-coding_Transcript|TERT_uc021xvz.1_Intron|TERT_uc021xwa.1_Intron|TERT_uc021xwb.1_Intron|TERT_uc021xwc.1_Missense_Mutation_p.P66L	NM_198253	NP_937983	O14746	TERT_HUMAN	Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 1, mRNA.	614	Reverse transcriptase.				DNA strand elongation|anti-apoptosis|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	PML body|cytoplasm|nucleolus|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CAGCAGGGCGGGCCTGGCTTC	0.627000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis					48			31		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168100393	168100393	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:168100393G>A	uc002udx.3	+	8	2580	c.2491G>A	c.(2491-2493)Gaa>Aaa	p.E831K	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.E656K|XIRP2_uc010fpq.3_Missense_Mutation_p.E609K|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	656					actin cytoskeleton organization	cell junction	actin binding	p.E831K(2)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CATTGAAAAGGAAAAAATAAT	0.388000														44			30		0	0	1	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27998105	27998105	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:27998105C>T	uc004dbx.1	-	0	1462	c.1347G>A	c.(1345-1347)cgG>cgA	p.R449R		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 8-like 1 (DCAF8L1), mRNA.	449								p.R449L(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						CAAACTCACTCCGGGGGCCAT	0.458000														1			13		0	0	1	0	0
FHOD1	29109	broad.mit.edu	37	16	67265175	67265175	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:67265175G>A	uc002esl.3	-	16	2695	c.2583C>T	c.(2581-2583)caC>caT	p.H861H	FHOD1_uc010ced.3_Silent_p.H668H	NM_013241	NP_037373	Q9Y613	FHOD1_HUMAN	Homo sapiens formin homology 2 domain containing 1 (FHOD1), mRNA.	861	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding	p.L860R(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		AGCAGAGATGGTGTAGCAGTG	0.577000														46			26		0	0	1	0	0
CORO7-PAM16	100529144	broad.mit.edu	37	16	4412714	4412714	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:4412714G>A	uc002cwf.3	-	14	1744	c.1301C>T	c.(1300-1302)tCg>tTg	p.S434L	CORO7-PAM16_uc002cwe.3_Non-coding_Transcript|CORO7-PAM16_uc002cwg.4_Missense_Mutation_p.S214L|CORO7-PAM16_uc002cwh.4_Missense_Mutation_p.S434L|CORO7-PAM16_uc010uxh.2_Missense_Mutation_p.S416L|CORO7-PAM16_uc010uxi.2_Missense_Mutation_p.S349L|CORO7-PAM16_uc002cwi.1_Missense_Mutation_p.S214L|CORO7-PAM16_uc010uxj.1_Non-coding_Transcript|CORO7-PAM16_uc010btp.1_Missense_Mutation_p.S214L	NM_001201479	NP_001188408			Homo sapiens CORO7-PAM16 readthrough (CORO7-PAM16), mRNA.																		CGAGGTCAGCGAACTGGGAGG	0.667000														3			5		0	0	1	0	0
V_alpha_immunoglobulin	0	broad.mit.edu	37	14	22675745	22675745	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:22675745C>T	uc001wdk.2	+	1	69	c.57C>T	c.(55-57)gtC>gtT	p.V19V	TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc001wdd.2_Intron|TCRA_uc010ajj.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajl.1_Intron|AV4S1_uc021rpv.1_Intron					Homo sapiens mRNA for T cell receptor alpha variable 34, partial cds, clone: SEB 406.																		GAACAGGGGTCAGTAGCCAAG	0.438000														5			5		0	0	1	0	0
ADAM28	10863	broad.mit.edu	37	8	24167439	24167439	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:24167439G>A	uc003xdy.3	+	2	266	c.183G>A	c.(181-183)atG>atA	p.M61I	ADAM28_uc003xdx.3_Missense_Mutation_p.M61I|ADAM28_uc011kzz.2_5'UTR|ADAM28_uc011laa.2_Non-coding_Transcript	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	61					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		AGTATAAAATGACAATTAATG	0.279000														35			26		0	0	1	0	0
COPA	1314	broad.mit.edu	37	1	160260340	160260340	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:160260340G>A	uc001fvv.4	-	31	3978	c.3584C>T	c.(3583-3585)cCa>cTa	p.P1195L	COPA_uc009wti.3_Missense_Mutation_p.P1186L	NM_001098398	NP_001091868	P53621	COPA_HUMAN	Homo sapiens coatomer protein complex, subunit alpha (COPA), transcript variant 1, mRNA.	1186					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCCACTGAGTGGACACTTTTC	0.463000														49			34		0	0	1	0	0
ASTL	431705	broad.mit.edu	37	2	96789926	96789926	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:96789926G>A	uc010yui.2	-	8	959	c.959C>T	c.(958-960)tCc>tTc	p.S320F		NM_001002036	NP_001002036	Q6HA08	ASTL_HUMAN	Homo sapiens astacin-like metallo-endopeptidase (M12 family) (ASTL), mRNA.	320					proteolysis		metalloendopeptidase activity|zinc ion binding	p.E319*(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						GGGGCTCCTGGATTCCGCCGA	0.657000														19			12		0	0	1	0	0
ZNF709	163051	broad.mit.edu	37	19	12577583	12577583	+	Missense_Mutation	SNP	A	G	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:12577583A>G	uc002mtv.4	-	1	246	c.85T>C	c.(85-87)Tac>Cac	p.Y29H	ZNF709_uc002mtw.4_5'UTR|ZNF709_uc002mtx.4_Missense_Mutation_p.Y29H	NM_152601	NP_689814	Q8N972	ZN709_HUMAN	Homo sapiens zinc finger protein 709 (ZNF709), mRNA.	29	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						ACATCTCTGTAGAGTTTCTTC	0.438000														68			33		0	0	1	0	0
SARS	6301	broad.mit.edu	37	1	109777952	109777952	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:109777952C>T	uc001dwu.2	+	6	968	c.868C>T	c.(868-870)Ctg>Ttg	p.L290L		NM_006513	NP_006504	P49591	SYSC_HUMAN	Homo sapiens seryl-tRNA synthetase (SARS), transcript variant 1, mRNA.	290					seryl-tRNA aminoacylation|tRNA processing	cytosol	ATP binding|RNA binding|protein binding|serine-tRNA ligase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	17		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	GCCGGAGGACCTGCCCATCAA	0.577000														39			31		0	0	1	0	0
CSN1S1	1446	broad.mit.edu	37	4	70810601	70810601	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:70810601C>T	uc003hep.1	+	14	485	c.436C>T	c.(436-438)Ccc>Tcc	p.P146S	CSN1S1_uc003heq.1_Missense_Mutation_p.P137S|CSN1S1_uc003her.1_Missense_Mutation_p.P138S	NM_001890	NP_001881	P47710	CASA1_HUMAN	Homo sapiens casein alpha s1 (CSN1S1), transcript variant 1, mRNA.	146						extracellular region	protein binding|transporter activity			lung(5)|prostate(1)|upper_aerodigestive_tract(1)	7						TGCTGCCTACCCCTATGCTGT	0.408000														214			94		0	0	1	0	0
OR8G2	26492	broad.mit.edu	37	11	124095962	124095962	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:124095962C>T	uc010saf.2	+	0	565	c.565C>T	c.(565-567)Cat>Tat	p.H189Y		NM_001007249	NP_001007250	Q8N0Y1	Q8N0Y1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily G, member 2 (OR8G2), mRNA.	189						integral to membrane	olfactory receptor activity						Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		TGTGATTAACCATTATTTTTG	0.428000														135			58		0	0	1	0	0
DLGAP3	58512	broad.mit.edu	37	1	35334316	35334316	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:35334316G>A	uc001byc.3	-	6	2375	c.2375C>T	c.(2374-2376)cCa>cTa	p.P792L		NM_001080418	NP_001073887	O95886	DLGP3_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 3 (DLGAP3), mRNA.	792					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				GCCGTCGCGTGGGCAGGGGGA	0.697000														33			26		0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196879440	196879440	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:196879440C>T	uc001gtp.3	+	5	966	c.829C>T	c.(829-831)Caa>Taa	p.Q277*	CFH_uc021pgt.1_Intron|CFH_uc009wyy.3_Nonsense_Mutation_p.Q276*|CFH_uc001gto.3_Intron	NM_001201550	NP_001188479	P08603	CFAH_HUMAN	Homo sapiens complement factor H-related 4 (CFHR4), transcript variant 1, mRNA.	637	Sushi 5.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TCCAGAAATTCAACATGGACA	0.333000														8			7		0	0	1	0	0
CYP2C19	1557	broad.mit.edu	37	10	96534946	96534946	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:96534946C>T	uc010qnz.2	+	1	300	c.300C>T	c.(298-300)ttC>ttT	p.F100F	CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_Silent_p.F78F	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	100					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity	p.F100C(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	GAGGCCATTTCCCACTGGCTG	0.498000														80			37		0	0	1	0	0
CLK2P	1197	broad.mit.edu	37	7	23624857	23624857	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:23624857G>A	uc003swk.2	-	0	1290	c.640C>T	c.(640-642)Ctg>Ttg	p.L214L						Homo sapiens CDC-like kinase 2, pseudogene (CLK2P), non-coding RNA.																		TCTGAGGTCAGATACTGCCGC	0.507000														45			26		0	0	1	0	0
ATP5EP2	432369	broad.mit.edu	37	13	28519373	28519373	+	RNA	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr13:28519373G>A	uc001uru.3	+	0		c.31G>A								Homo sapiens ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit pseudogene 2 (ATP5EP2), transcript variant 6, non-coding RNA.											ovary(1)	1						GATTTGGCCCGACGCGCTCCG	0.493000														8			5		0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65476088	65476088	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:65476088G>A	uc011moz.2	+	16	3111	c.2974G>A	c.(2974-2976)Gaa>Aaa	p.E992K	HEPH_uc004dwn.3_Missense_Mutation_p.E941K|HEPH_uc004dwo.3_Missense_Mutation_p.E671K|HEPH_uc010nkr.3_Missense_Mutation_p.E749K|HEPH_uc011mpa.2_Missense_Mutation_p.E941K|HEPH_uc010nks.3_Missense_Mutation_p.E230K	NM_138737	NP_055614	Q9BQS7	HEPH_HUMAN	Homo sapiens hephaestin (HEPH), transcript variant 1, mRNA.	938	Plastocyanin-like 6.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						GTATTTGGAGGAAAATGTGGC	0.433000														11			23		0	0	1	0	0
OR8D1	283159	broad.mit.edu	37	11	124180586	124180586	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:124180586G>A	uc010sag.2	-	0	77	c.77C>T	c.(76-78)cCc>cTc	p.P26L		NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 1 (OR8D1), mRNA.	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		GAGGAAGAGGGGCAGCTGGAG	0.478000														111			58		0	0	1	0	0
ABCA3	21	broad.mit.edu	37	16	2334793	2334793	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:2334793G>A	uc002cpy.1	-	23	4402	c.3690C>T	c.(3688-3690)atC>atT	p.I1230I	ABCA3_uc010bsk.1_Silent_p.I1172I	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA.	1230					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				GGATGCGCATGATGGTGACCA	0.632000														16			8		0	0	1	0	0
ZNF850	342892	broad.mit.edu	37	19	37253237	37253237	+	Missense_Mutation	SNP	T	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:37253237T>A	uc010efc.3	-	2	268	c.109A>T	c.(109-111)Atg>Ttg	p.M37L	ZNF850_uc010xtm.2_Missense_Mutation_p.M35L	NM_001193552	NP_001180481	A8MQ14	ZN850_HUMAN	Homo sapiens zinc finger protein 850 (ZNF850), mRNA.	37	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										TAGTTCTCCATCATTACATCT	0.458000														10			8		0	0	1	0	0
DIEXF	27042	broad.mit.edu	37	1	210012343	210012343	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:210012343C>T	uc001hhr.2	+	6	1249	c.1152C>T	c.(1150-1152)atC>atT	p.I384I	DIEXF_uc009xcu.2_Silent_p.I99I	NM_014388	NP_055203	Q68CQ4	DIEXF_HUMAN	Homo sapiens digestive organ expansion factor homolog (zebrafish) (DIEXF), mRNA.	384					multicellular organismal development	nucleus				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						AGAAGAAAATCATTGTGAGCA	0.502000														63			31		0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89400835	89400835	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:89400835C>T	uc010upo.1	+	11	5393	c.5019C>T	c.(5017-5019)tcC>tcT	p.S1673S	ACAN_uc010upp.1_Silent_p.S1673S|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	1673					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TCACAGCCTCCACTGCAAGTG	0.537000														105			56		0	0	1	0	0
UGT2B4	7363	broad.mit.edu	37	4	70346525	70346525	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:70346525C>T	uc003hek.4	-	5	1461	c.1414G>A	c.(1414-1416)Gga>Aga	p.G472R	UGT2B4_uc011cap.2_Missense_Mutation_p.G336R|UGT2B4_uc003hel.4_3'UTR	NM_021139	NP_066962	P06133	UD2B4_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA.	472					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						TGCTTGGCTCCTTTATGGCGC	0.483000														89			51		0	0	1	0	0
PLA2R1	22925	broad.mit.edu	37	2	160901421	160901421	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:160901421C>T	uc002ube.2	-	1	569	c.357G>A	c.(355-357)agG>agA	p.R119R	PLA2R1_uc010zcp.2_Silent_p.R119R|PLA2R1_uc002ubf.3_Silent_p.R119R	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA.	119	Ricin B-type lectin.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding	p.R119M(1)	PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						TGATCATCTTCCTGTTACAGC	0.522000														59			26		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34052167	34052167	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:34052167C>T	uc001bxm.1	-	45	7165	c.6988G>A	c.(6988-6990)Gaa>Aaa	p.E2330K	CSMD2_uc001bxn.1_Missense_Mutation_p.E2332K	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	2332	Sushi 13.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GTCAGAATTTCATTCCCCACT	0.478000														40			25		0	0	1	0	0
POU5F1B	5462	broad.mit.edu	37	8	128429119	128429119	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:128429119C>T	uc003ysf.3	+	0	1263	c.1008C>T	c.(1006-1008)gtC>gtT	p.V336V	LOC727677_uc003ysc.1_Intron|LOC727677_uc003ysd.1_Intron|LOC727677_uc003yse.1_Intron|POU5F1B_uc011liu.1_5'Flank	NM_001159542	NP_001153014	Q06416	P5F1B_HUMAN	Homo sapiens POU class 5 homeobox 1B (POU5F1B), mRNA.	336						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)|prostate(1)|urinary_tract(1)	3						ACTCCTCAGTCCCTTTCCCTG	0.587000														0			11		0	0	1	0	0
PLCL2	23228	broad.mit.edu	37	3	17051990	17051990	+	Silent	SNP	T	C	C			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:17051990T>C	uc011awc.2	+	2	1224	c.1128T>C	c.(1126-1128)atT>atC	p.I376I	PLCL2_uc010het.1_Intron|PLCL2_uc011awd.2_Silent_p.I258I	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN	Homo sapiens phospholipase C-like 2 (PLCL2), transcript variant 1, mRNA.	384					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						GCCTTGAAATTATTCACAAAT	0.393000														32			18		0	0	1	0	0
C6	729	broad.mit.edu	37	5	41153958	41153958	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:41153958C>T	uc003jmk.2	-	14	2454	c.2244G>A	c.(2242-2244)ggG>ggA	p.G748G	C6_uc003jml.1_Silent_p.G748G	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	748	C5b-binding domain.|Sushi 2.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	p.G748G(2)|p.G748R(1)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TCCAGGAATTCCCCTGGCATG	0.473000														22			11		0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20762649	20762649	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:20762649C>T	uc010kuh.3	+	20	2669	c.2432C>T	c.(2431-2433)tCc>tTc	p.S811F	ABCB5_uc003suw.4_Missense_Mutation_p.S366F|ABCB5_uc003sux.1_5'UTR	NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	366					regulation of membrane potential	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GCAACAGGTTCCAGGATTGGC	0.353000														66			24		0	0	1	0	0
TAGLN2	8407	broad.mit.edu	37	1	159890279	159890279	+	Silent	SNP	T	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:159890279T>A	uc001fun.1	-	1	94	c.21A>T	c.(19-21)gcA>gcT	p.A7A	TAGLN2_uc010piy.1_Silent_p.A7A	NM_003564	NP_003555	P37802	TAGL2_HUMAN	Homo sapiens transgelin 2 (TAGLN2), mRNA.	7					muscle organ development	nuclear membrane|plasma membrane	protein binding			endometrium(1)|large_intestine(2)|lung(6)	9	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCAGGCCATATGCAGGTCCCC	0.587000														26			15		0	0	1	0	0
STARD8	9754	broad.mit.edu	37	X	67939074	67939074	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:67939074C>T	uc004dxb.3	+	6	1937	c.1723C>T	c.(1723-1725)Cgt>Tgt	p.R575C	STARD8_uc004dxa.3_Missense_Mutation_p.R495C|STARD8_uc004dxc.4_Missense_Mutation_p.R495C	NM_001142503	NP_055540	Q92502	STAR8_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 8 (STARD8), transcript variant 1, mRNA.	495	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						CAGGAAGCTCCGTTGGCATAG	0.562000														4			12		0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	124008183	124008183	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:124008183C>T	uc001lfv.3	+	19	8778	c.8418C>T	c.(8416-8418)gtC>gtT	p.V2806V	TACC2_uc001lfw.3_Silent_p.V952V|TACC2_uc009xzx.3_Silent_p.V2684V|TACC2_uc010qtv.2_Silent_p.V2733V|TACC2_uc001lfx.3_Silent_p.V433V|TACC2_uc001lfy.3_Silent_p.V429V|TACC2_uc001lfz.3_Silent_p.V884V|TACC2_uc001lga.3_Silent_p.V854V|TACC2_uc009xzy.3_Silent_p.V866V|TACC2_uc001lgb.3_Silent_p.V764V	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	2806						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AGAAGTCAGTCTCCCACCAGA	0.587000														65			41		0	0	1	0	0
PIDD	55367	broad.mit.edu	37	11	799338	799338	+	Missense_Mutation	SNP	G	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:799338G>T	uc001lro.2	-	15	2849	c.2702C>A	c.(2701-2703)gCt>gAt	p.A901D	SLC25A22_uc009yci.3_5'Flank|SLC25A22_uc001lrj.3_5'Flank|PIDD_uc009yck.1_Non-coding_Transcript|PIDD_uc001lrl.1_Missense_Mutation_p.A744D|PIDD_uc001lrm.1_Missense_Mutation_p.A588D|PIDD_uc001lrn.2_Missense_Mutation_p.A744D|PIDD_uc001lrk.2_Missense_Mutation_p.A884D|PIDD_uc001lrp.2_3'UTR	NM_145886	NP_665893	Q9HB75	PIDD_HUMAN	Homo sapiens p53-induced death domain protein (PIDD), transcript variant 1, mRNA.	901					apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding										GGGCTGTGGAGCCGAGGAGCC	0.667000														25			3		1	1	1	1	0
KCNJ8	3764	broad.mit.edu	37	12	21918682	21918682	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:21918682C>T	uc001rff.3	-	2	1588	c.1250G>A	c.(1249-1251)gGa>gAa	p.G417E		NM_004982	NP_004973	Q15842	IRK8_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 8 (KCNJ8), mRNA.	417						voltage-gated potassium channel complex				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Levosimendan(DB00922)	GTTTTGATTTCCTTCTGGAGT	0.423000														83			44		0	0	1	0	0
FPR3	2359	broad.mit.edu	37	19	52327730	52327730	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:52327730C>T	uc002pxt.1	+	1	913	c.729C>T	c.(727-729)ttC>ttT	p.F243F	FPR3_uc021uyq.1_Silent_p.F243F	NM_002030	NP_002021	P25089	FPR3_HUMAN	Homo sapiens formyl peptide receptor 3 (FPR3), mRNA.	243					cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						TACGTGTCTTCGCTGCTGTGG	0.448000														16			9		0	0	1	0	0
EPHB4	2050	broad.mit.edu	37	7	100403206	100403206	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:100403206G>A	uc003uwn.1	-	14	3086	c.2595C>T	c.(2593-2595)ccC>ccT	p.P865P	EPHB4_uc003uwm.1_Silent_p.P772P|EPHB4_uc010lhj.1_Silent_p.P865P	NM_004444	NP_004435	P54760	EPHB4_HUMAN	Homo sapiens EPH receptor B4 (EPHB4), mRNA.	865	Protein kinase.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					GGGGGAAGCGGGGCCGGGCAT	0.647000														92			58		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179569389	179569389	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:179569389C>T	uc021vsy.1	-	101	26303	c.26078G>A	c.(26077-26079)gGa>gAa	p.G8693E	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G5354E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9620	Ig-like 69.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTTTCAGTTCCTTTGTACCA	0.343000														8			3		0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4685851	4685851	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:4685851C>T	uc003bqc.3	+	7	907	c.557C>T	c.(556-558)cCc>cTc	p.P186L	ITPR1_uc010hbz.3_Missense_Mutation_p.P186L|ITPR1_uc021wsi.1_Missense_Mutation_p.P186L|ITPR1_uc021wsj.1_Missense_Mutation_p.P186L|ITPR1_uc011asu.2_Missense_Mutation_p.P186L	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	186	MIR 2.				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GTTCTGAACCCCGTCAATGCT	0.502000														10			3		0	0	1	0	0
HSF4	3299	broad.mit.edu	37	16	67199648	67199648	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:67199648G>T	uc002erl.2	+	4	1224	c.259G>T	c.(259-261)Gag>Tag	p.E87*	HSF4_uc002erm.2_Nonsense_Mutation_p.E87*|HSF4_uc002ern.1_Non-coding_Transcript|HSF4_uc010cec.1_Non-coding_Transcript	NM_001040667	NP_001035757	Q9ULV5	HSF4_HUMAN	Homo sapiens heat shock transcription factor 4 (HSF4), transcript variant 2, mRNA.	87					response to stress	nucleus	sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		GGTGAGCATCGAGCAGGGCGG	0.731000														10			11		2.32078e-09	2.34234e-09	1	1	0
BUB1	699	broad.mit.edu	37	2	111417562	111417562	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:111417562G>A	uc002tgc.3	-	10	1381	c.1269C>T	c.(1267-1269)atC>atT	p.I423I	BUB1_uc010yxh.2_Silent_p.I403I|BUB1_uc010fkb.3_Silent_p.I423I	NM_004336	NP_004327	O43683	BUB1_HUMAN	Homo sapiens budding uninhibited by benzimidazoles 1 homolog (yeast) (BUB1), mRNA.	423					apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		TACCTTCTTTGATCTCTGCTC	0.378000														37			20		0	0	1	0	0
FAM5B	57795	broad.mit.edu	37	1	177249674	177249674	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:177249674C>T	uc001glf.3	+	7	1674	c.1362C>T	c.(1360-1362)ggC>ggT	p.G454G	FAM5B_uc001glg.3_Silent_p.G349G	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA.	454						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						CCTGCCAGGGCCCCATCCCAT	0.622000														16			3		0	0	1	0	0
MYEOV2	150678	broad.mit.edu	37	2	241066336	241066336	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:241066336C>T	uc002vyu.1	-	4	403	c.403G>A	c.(403-405)Gaa>Aaa	p.E135K		NM_138336	NP_612209	Q8WXC6	MYOV2_HUMAN	Homo sapiens myeloma overexpressed 2 (MYEOV2), transcript variant 1, mRNA.	0										breast(1)|lung(5)|pancreas(1)	7		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)		GCTGCCACTTCTCTCCCGTTC	0.567000														49			15		0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17100519	17100519	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:17100519G>A	uc002nfb.3	-	12	1502	c.1470C>T	c.(1468-1470)tcC>tcT	p.S490S		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	443						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						AGCTGCCGAGGGAGAGGTAGC	0.597000														30			19		0	0	1	0	0
TRO	7216	broad.mit.edu	37	X	54956639	54956639	+	Missense_Mutation	SNP	G	C	C			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:54956639G>C	uc004dtq.3	+	11	3589	c.3482G>C	c.(3481-3483)aGt>aCt	p.S1161T	TRO_uc004dts.3_Intron|TRO_uc004dtr.3_Intron|TRO_uc004dtt.3_Intron|TRO_uc004dtu.3_Intron|TRO_uc004dtv.3_Intron|TRO_uc011mok.2_Missense_Mutation_p.S692T|TRO_uc004dtw.3_Missense_Mutation_p.S764T|TRO_uc004dtx.3_Missense_Mutation_p.S544T	NM_001039705	NP_001034794	Q12816	TROP_HUMAN	Homo sapiens trophinin (TRO), transcript variant 6, mRNA.	1161	62 X 10 AA approximate tandem repeats.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						TGCTTTGGCAGTGCATCTAAT	0.557000														11			28		0	0	1	0	0
PTPRS	5802	broad.mit.edu	37	19	5274318	5274318	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:5274318G>A	uc002mbv.3	-	2	363	c.129C>T	c.(127-129)atC>atT	p.I43I	PTPRS_uc002mbu.1_Silent_p.I43I|PTPRS_uc010xin.2_Silent_p.I43I|PTPRS_uc002mbw.3_Silent_p.I43I|PTPRS_uc002mbx.3_Silent_p.I43I|PTPRS_uc002mby.3_Silent_p.I43I|PTPRS_uc002mbz.1_Silent_p.I43I	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, S (PTPRS), transcript variant 1, mRNA.	43	Ig-like C2-type 1.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		CCGACACGCCGATCTGGTCCT	0.592000														18			7		0	0	1	0	0
TNRC18	84629	broad.mit.edu	37	7	5427620	5427621	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:5427620_5427621GG>AA	uc003soi.4	-	4	2183_2184	c.1834_1835CC>TT	c.(1834-1836)ccc>TTc	p.P612F	TNRC18_uc010ksx.1_Missense_Mutation_p.P538F	NM_001080495	NP_001073964	O15417	TNC18_HUMAN	Homo sapiens trinucleotide repeat containing 18 (TNRC18), mRNA.	612							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		ACCTCCAAAGGGGCTCTTCTTG	0.673000														2			3		0	0	1	0	0
DACH2	117154	broad.mit.edu	37	X	85769328	85769328	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:85769328G>A	uc004eew.2	+	2	744	c.574G>A	c.(574-576)Gaa>Aaa	p.E192K	DACH2_uc004eex.2_Missense_Mutation_p.E179K|DACH2_uc010nmq.2_Missense_Mutation_p.E58K|DACH2_uc011mra.1_Missense_Mutation_p.E25K|DACH2_uc010nmr.2_5'UTR	NM_053281	NP_001132987	Q96NX9	DACH2_HUMAN	Homo sapiens dachshund homolog 2 (Drosophila) (DACH2), transcript variant 1, mRNA.	192					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						AGTGTTGCAGGAAAATGCCCG	0.458000														6			17		0	0	1	0	0
GRHL2	79977	broad.mit.edu	37	8	102555649	102555649	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:102555649C>T	uc010mbu.3	+	1	531	c.201C>T	c.(199-201)ctC>ctT	p.L67L	GRHL2_uc010mbt.1_Silent_p.L67L|GRHL2_uc011lhi.1_Silent_p.L67L	NM_024915	NP_079191	Q6ISB3	GRHL2_HUMAN	Homo sapiens grainyhead-like 2 (Drosophila) (GRHL2), mRNA.	67	Transcription activation.					cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			TCGGCCTGCTCTATGACTACT	0.527000														58			21		0	0	1	0	0
C20orf152	140894	broad.mit.edu	37	20	34611578	34611578	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr20:34611578C>T	uc002xer.1	+	10	1468	c.1312C>T	c.(1312-1314)Ctg>Ttg	p.L438L	C20orf152_uc002xes.1_Intron|C20orf152_uc010gfp.1_Intron	NM_080834	NP_543024	Q96M20	CT152_HUMAN	Homo sapiens chromosome 20 open reading frame 152 (C20orf152), transcript variant 1, mRNA.	442										breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)	18	Breast(12;0.00631)					ACCCTTGATCCTGATGAGCCT	0.453000														48			41		0	0	1	0	0
JAKMIP3	282973	broad.mit.edu	37	10	133961522	133961522	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:133961522G>A	uc001lkx.4	+	12	1816	c.1816G>A	c.(1816-1818)Gag>Aag	p.E606K	JAKMIP3_uc009yba.1_Missense_Mutation_p.E43K	NM_001105521	NP_001098991			Homo sapiens Janus kinase and microtubule interacting protein 3 (JAKMIP3), mRNA.											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		AGACCAAAACGAGCTGCTGGA	0.547000														12			6		0	0	1	0	0
GABRQ	55879	broad.mit.edu	37	X	151821611	151821611	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:151821611C>T	uc004ffp.1	+	8	1786	c.1766C>T	c.(1765-1767)tCc>tTc	p.S589F		NM_018558	NP_061028	Q9UN88	GBRT_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) receptor, theta (GABRQ), mRNA.	589						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|neurotransmitter transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					CCTGGGTGCTCCTTCACTGAA	0.542000														13			25		0	0	1	0	0
BMPER	168667	broad.mit.edu	37	7	34094839	34094839	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:34094839G>A	uc011kap.2	+	9	1225	c.851G>A	c.(850-852)gGc>gAc	p.G284D		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	Homo sapiens BMP binding endothelial regulator (BMPER), mRNA.	284	VWFC 4.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						GGCCAGGAGGGCTGTTGTGAA	0.493000														56			37		0	0	1	0	0
COL20A1	57642	broad.mit.edu	37	20	61959705	61959705	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr20:61959705C>T	uc011aau.2	+	33	3736	c.3636C>T	c.(3634-3636)tcC>tcT	p.S1212S	COL20A1_uc011aav.2_Silent_p.S1039S	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA.	1212					cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					AGTTCGACTCCTTCCACGAGA	0.677000														13			4		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21230271	21230271	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:21230271C>T	uc002red.3	-	25	9597	c.9469G>A	c.(9469-9471)Ggc>Agc	p.G3157S		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3157					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TCCTTCAAGCCTGTTTTTTCC	0.343000														59			25		0	0	1	0	0
ANKRD35	148741	broad.mit.edu	37	1	145562252	145562252	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:145562252C>T	uc001eob.1	+	9	2048	c.1940C>T	c.(1939-1941)tCc>tTc	p.S647F	ANKRD35_uc010oyx.1_Missense_Mutation_p.S490F	NM_144698	NP_653299	Q8N283	ANR35_HUMAN	Homo sapiens ankyrin repeat domain 35 (ANKRD35), mRNA.	647										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GAGCTACAGTCCCTGAGCCAG	0.592000														38			21		0	0	1	0	0
PSMC4	5704	broad.mit.edu	37	19	40478366	40478366	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:40478366C>T	uc002omq.3	+	2	263	c.226C>T	c.(226-228)Cag>Tag	p.Q76*	PSMC4_uc002omr.3_Intron	NM_006503	NP_006494	P43686	PRS6B_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, ATPase, 4 (PSMC4), transcript variant 1, mRNA.	76					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TCTCCATGCCCAGGAGGAGGT	0.517000														21			13		0	0	1	0	0
SLC6A4	6532	broad.mit.edu	37	17	28545313	28545313	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:28545313G>A	uc002hey.4	-	4	1065	c.521C>T	c.(520-522)tCc>tTc	p.S174F		NM_001045	NP_001036	P31645	SC6A4_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 (SLC6A4), mRNA.	174					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	Rab GTPase binding|actin filament binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	GTTGTAGTAGGAAGCAATGTA	0.547000														23			12		0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7620310	7620310	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:7620310C>T	uc003bqm.2	+	7	1991	c.1717C>T	c.(1717-1719)Cga>Tga	p.R573*	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Nonsense_Mutation_p.R573*|GRM7_uc003bql.2_Nonsense_Mutation_p.R573*|GRM7_uc003bqn.1_Nonsense_Mutation_p.R156*|GRM7_uc010hch.1_Nonsense_Mutation_p.R84*	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	573					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	CAATGAAAATCGAACCGGATG	0.522000														83			35		0	0	1	0	0
KIF7	374654	broad.mit.edu	37	15	90190845	90190845	+	Missense_Mutation	SNP	C	G	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:90190845C>G	uc002bof.2	-	5	1619	c.1542G>C	c.(1540-1542)atG>atC	p.M514I	KIF7_uc010upw.1_Missense_Mutation_p.M1I	NM_198525	NP_940927	Q2M1P5	KIF7_HUMAN	Homo sapiens kinesin family member 7 (KIF7), mRNA.	514					microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			TGTACTGCTCCATGGCGTCCT	0.632000											OREG0023460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		19			7		0	0	1	0	0
NCOR2	9612	broad.mit.edu	37	12	124819002	124819002	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:124819002G>A	uc021rga.1	-	40	6711	c.6594C>T	c.(6592-6594)gcC>gcT	p.A2198A	NCOR2_uc021rgb.1_Silent_p.A2182A|NCOR2_uc010tbb.2_Silent_p.A2191A|NCOR2_uc010tbc.2_Silent_p.A2181A|NCOR2_uc021rgc.1_Silent_p.A2181A|NCOR2_uc010tax.2_Silent_p.A312A	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.	2202					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|Notch binding|histone deacetylase binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GGGAGCCACGGGCCGGGGCAC	0.726000														6			11		0	0	1	0	0
SPR	6697	broad.mit.edu	37	2	73118507	73118507	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:73118507C>T	uc002sik.2	+	2	677	c.627C>T	c.(625-627)gcC>gcT	p.A209A		NM_003124	NP_003115	P35270	SPRE_HUMAN	Homo sapiens sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase) (SPR), mRNA.	209					nitric oxide biosynthetic process|tetrahydrobiopterin biosynthetic process	cytoplasm	NADP binding|aldo-keto reductase (NADP) activity|sepiapterin reductase activity			lung(4)|ovary(2)	6						AGCAGTTGGCCCGGGAGACCT	0.567000														39			19		0	0	1	0	0
ESYT3	83850	broad.mit.edu	37	3	138183346	138183346	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:138183346G>A	uc003esk.3	+	8	1301	c.1075G>A	c.(1075-1077)Gaa>Aaa	p.E359K	ESYT3_uc010hug.2_Non-coding_Transcript	NM_031913	NP_114119	A0FGR9	ESYT3_HUMAN	Homo sapiens extended synaptotagmin-like protein 3 (ESYT3), mRNA.	359	C2 1.					integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						CACCTGGAACGAAGTGTTTGA	0.582000														47			18		0	0	1	0	0
EBF2	64641	broad.mit.edu	37	8	25708206	25708206	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:25708206G>A	uc003xes.2	-	14	1865	c.1600C>T	c.(1600-1602)Cct>Tct	p.P534S	DOCK5_uc003xek.3_Intron|EBF2_uc010lug.2_Non-coding_Transcript	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	Homo sapiens early B-cell factor 2 (EBF2), mRNA.	534	Pro/Ser/Thr-rich.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		TTGACAGCAGGAAAAACTGAA	0.507000														11			18		0	0	1	0	0
CD84	8832	broad.mit.edu	37	1	160535389	160535389	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:160535389G>A	uc001fwh.4	-	1	272	c.193C>T	c.(193-195)Cca>Tca	p.P65S	CD84_uc001fwf.4_Missense_Mutation_p.P65S|CD84_uc009wtn.3_Missense_Mutation_p.P65S|CD84_uc001fwi.4_Intron|CD84_uc001fwg.4_Missense_Mutation_p.P65S|CD84_uc001fwj.3_Missense_Mutation_p.P65S|CD84_uc001fwk.3_Missense_Mutation_p.P65S	NM_001184879	NP_001171808	Q9UIB8	SLAF5_HUMAN	Homo sapiens CD84 molecule (CD84), transcript variant 1, mRNA.	65					blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			GAGTCTCCTGGTGTTACATAA	0.423000														100			51		0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46230691	46230691	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:46230691C>T	uc001ros.1	+	7	940	c.940C>T	c.(940-942)Cgt>Tgt	p.R314C	ARID2_uc001ror.3_Missense_Mutation_p.R314C|ARID2_uc009zkg.1_5'UTR|ARID2_uc009zkh.1_5'Flank|ARID2_uc001rot.1_5'UTR	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	314					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.R314S(2)|p.R314C(2)|p.L313L(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TACCTGTCTTCGTTTCCTATT	0.398000			"""N, S, F"""		hepatocellular carcinoma									53			24		0	0	1	0	0
INMT	11185	broad.mit.edu	37	7	30795310	30795310	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:30795310C>T	uc003tbs.1	+	2	651	c.635C>T	c.(634-636)tCc>tTc	p.S212F	FAM188B_uc010kwe.3_Intron|INMT_uc010kwc.1_Non-coding_Transcript|INMT_uc010kwd.1_Missense_Mutation_p.S211F	NM_006774	NP_006765	O95050	INMT_HUMAN	Homo sapiens indolethylamine N-methyltransferase (INMT), transcript variant 1, mRNA.	212						cytoplasm	amine N-methyltransferase activity			kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1)	23						CGTGAATTTTCCTGCGTGGCC	0.597000														30			16		0	0	1	0	0
LHX8	431707	broad.mit.edu	37	1	75606725	75606725	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:75606725C>T	uc001dgo.3	+	4	987	c.323C>T	c.(322-324)tCc>tTc	p.S108F	LHX8_uc021oou.1_Missense_Mutation_p.S108F|LHX8_uc001dgq.3_Missense_Mutation_p.S47F	NM_001001933	NP_001001933	Q68G74	LHX8_HUMAN	Homo sapiens LIM homeobox 8 (LHX8), transcript variant 1, mRNA.	108	LIM zinc-binding 1.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						TGCAGAACCTCCCTAGGAAGG	0.403000														65			34		0	0	1	0	0
UBXN8	7993	broad.mit.edu	37	8	30601792	30601792	+	Missense_Mutation	SNP	T	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:30601792T>A	uc003xii.3	+	0	103	c.86T>A	c.(85-87)aTa>aAa	p.I29K	UBXN8_uc010lvi.3_Missense_Mutation_p.I29K|UBXN8_uc011lbb.2_Non-coding_Transcript	NM_005671	NP_005662	O00124	UBXN8_HUMAN	Homo sapiens UBX domain protein 8 (UBXN8), mRNA.	29					single fertilization					central_nervous_system(1)|lung(2)	3						ATCCCGGATATAGGTAAGTGT	0.557000														6			9		0	0	1	0	0
ZNF385B	151126	broad.mit.edu	37	2	180348136	180348136	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:180348136C>T	uc002unn.4	-	5	1137	c.533G>A	c.(532-534)gGa>gAa	p.G178E	ZNF385B_uc002unj.3_Missense_Mutation_p.G76E|ZNF385B_uc002unl.3_Missense_Mutation_p.G75E|ZNF385B_uc002unk.3_Non-coding_Transcript|ZNF385B_uc002unm.3_Missense_Mutation_p.G102E	NM_152520	NP_001106869	Q569K4	Z385B_HUMAN	Homo sapiens zinc finger protein 385B (ZNF385B), transcript variant 1, mRNA.	178						nucleus	nucleic acid binding|zinc ion binding	p.G178R(1)		breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			ATGTTTACTTCCTTTGTAGTG	0.453000														50			24		0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22940978	22940978	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:22940978G>A	uc021urt.1	-	3	1888	c.1733C>T	c.(1732-1734)tCa>tTa	p.S578L		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AGTAAGATGTGAAGATTGCTT	0.358000														56			24		0	0	1	0	0
SRGN	5552	broad.mit.edu	37	10	70863851	70863851	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:70863851G>A	uc001joz.3	+	2	538	c.452G>A	c.(451-453)gGa>gAa	p.G151E	SRGN_uc021prx.1_Missense_Mutation_p.G95E	NM_002727	NP_002718	P10124	SRGN_HUMAN	Homo sapiens serglycin (SRGN), transcript variant 1, mRNA.	151					apoptosis|biomineral tissue development|maintenance of granzyme B location in T cell secretory granule|maintenance of protease location in mast cell secretory granule|negative regulation of bone mineralization|negative regulation of cytokine secretion|platelet activation|platelet degranulation|protein maturation by peptide bond cleavage	extracellular space|mast cell granule|platelet alpha granule lumen				large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(3)	7						GGTCAACATGGATTAGAAGAG	0.398000														62			38		0	0	1	0	0
RXFP1	59350	broad.mit.edu	37	4	159533480	159533480	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:159533480C>T	uc003ipz.3	+	7	909	c.646C>T	c.(646-648)Cca>Tca	p.P216S	RXFP1_uc010iqj.2_Missense_Mutation_p.P45S|RXFP1_uc010iqk.3_Missense_Mutation_p.P84S|RXFP1_uc011cja.2_Missense_Mutation_p.P135S|RXFP1_uc010iqo.3_Missense_Mutation_p.P216S|RXFP1_uc011cjb.2_Missense_Mutation_p.P162S|RXFP1_uc011cjc.2_Missense_Mutation_p.P135S|RXFP1_uc011cjd.2_Missense_Mutation_p.P135S|RXFP1_uc010iql.3_Missense_Mutation_p.P84S|RXFP1_uc011cje.2_Missense_Mutation_p.P243S|RXFP1_uc010iqm.3_Missense_Mutation_p.P183S|RXFP1_uc011cjf.2_Missense_Mutation_p.P86S|RXFP1_uc010iqn.3_Missense_Mutation_p.P162S	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 1 (RXFP1), transcript variant 1, mRNA.	216						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		AATTTCCCCACCAACATTTTA	0.284000														23			12		0	0	1	0	0
LRRC47	57470	broad.mit.edu	37	1	3701755	3701755	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:3701755C>T	uc001akx.1	-	2	1118	c.1090G>A	c.(1090-1092)Gaa>Aaa	p.E364K		NM_020710	NP_065761	Q8N1G4	LRC47_HUMAN	Homo sapiens leucine rich repeat containing 47 (LRRC47), mRNA.	364					translation		RNA binding|phenylalanine-tRNA ligase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		CAGAGATCTTCGTGGAGCTTG	0.617000														60			27		0	0	1	0	0
GRIA2	2891	broad.mit.edu	37	4	158233857	158233857	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:158233857G>A	uc003ipm.4	+	3	955	c.496G>A	c.(496-498)Gat>Aat	p.D166N	GRIA2_uc011cit.2_Missense_Mutation_p.D119N|GRIA2_uc021xtr.1_Missense_Mutation_p.D166N|GRIA2_uc003ipl.4_Missense_Mutation_p.D166N|GRIA2_uc003ipk.4_Missense_Mutation_p.D119N|GRIA2_uc010iqh.1_Non-coding_Transcript	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 2 (GRIA2), transcript variant 2, mRNA.	166					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	AGCTGTGCTGGATTCTGCTGC	0.383000														32			16		0	0	1	0	0
ABCC3	8714	broad.mit.edu	37	17	48744965	48744965	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:48744965C>T	uc002isl.3	+	11	1562	c.1482C>T	c.(1480-1482)atC>atT	p.I494I	ABCC3_uc002isk.4_Silent_p.I494I	NM_003786	NP_003777	O15438	MRP3_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA.	494	ABC transmembrane type-1 1.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	TGAGTGAGATCCTGAACGGCA	0.582000														36			18		0	0	1	0	0
ENTPD5	957	broad.mit.edu	37	14	74439610	74439610	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:74439610C>T	uc010tuo.2	-	12	1315	c.1004G>A	c.(1003-1005)cGa>cAa	p.R335Q	ENTPD5_uc001xpi.3_Missense_Mutation_p.R335Q	NM_001249	NP_001240	O75356	ENTP5_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 5 (ENTPD5), mRNA.	335					'de novo' posttranslational protein folding|ATP metabolic process|cell growth|cell proliferation|glycolysis|protein N-linked glycosylation|regulation of phosphatidylinositol 3-kinase cascade	endoplasmic reticulum lumen	guanosine-diphosphatase activity|uridine-diphosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(234;0.00394)		GTCAACAGCTCGGTCATAATA	0.527000														105			59		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216258139	216258139	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:216258139G>A	uc001hku.1	-	24	5455	c.5068C>T	c.(5068-5070)Cct>Tct	p.P1690S		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	1690	Laminin G-like 1.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CAATCCAGAGGTTCCCAAATA	0.428000										HNSCC(13;0.011)				51			38		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179455032	179455032	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:179455032G>A	uc021vsy.1	-	252	53941	c.53716C>T	c.(53716-53718)Cca>Tca	p.P17906S	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.P11601S|TTN_uc021vta.1_Missense_Mutation_p.P11534S|TTN_uc021vtb.1_Missense_Mutation_p.P11409S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	18833	Fibronectin type-III 29.		G -> E (in a metastatic melanoma sample; somatic mutation).				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTACTTCTGGAGGATGAAGG	0.428000														70			32		0	0	1	0	0
CHRNB4	1143	broad.mit.edu	37	15	78921780	78921780	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:78921780G>A	uc002bed.1	-	4	979	c.867C>T	c.(865-867)tcC>tcT	p.S289S	CHRNB4_uc002bee.1_Intron|CHRNB4_uc010blh.1_Silent_p.S107S	NM_000750	NP_000741	P30926	ACHB4_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 4 (CHRNB4), mRNA.	289					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						GCACATCGAGGGAGGTGGGTG	0.567000														40			22		0	0	1	0	0
C7orf42	55069	broad.mit.edu	37	7	66410093	66410093	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:66410093C>T	uc003tvk.3	+	2	554	c.290C>T	c.(289-291)tCc>tTc	p.S97F	C7orf42_uc010lah.3_Non-coding_Transcript	NM_017994	NP_060464	Q9NWD8	CG042_HUMAN	Homo sapiens chromosome 7 open reading frame 42 (C7orf42), mRNA.	97						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	17						GCCCGAGCTTCCACCCAGTCC	0.557000														38			20		0	0	1	0	0
MCHR1	2847	broad.mit.edu	37	22	41077203	41077203	+	Missense_Mutation	SNP	T	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr22:41077203T>A	uc003ayz.3	+	1	808	c.540T>A	c.(538-540)ttT>ttA	p.F180L	MCHR1_uc003aza.3_Missense_Mutation_p.F69L	NM_005297	NP_005288	Q99705	MCHR1_HUMAN	Homo sapiens melanin-concentrating hormone receptor 1 (MCHR1), mRNA.	180					elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity			endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						TGTGGCACTTTGGGGAGACCA	0.557000														134			47		0	0	1	0	0
CYP4B1	1580	broad.mit.edu	37	1	47279916	47279916	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:47279916G>A	uc001cqn.4	+	6	895	c.811G>A	c.(811-813)Gat>Aat	p.D271N	CYP4B1_uc009vyl.1_Missense_Mutation_p.D107N|CYP4B1_uc001cqm.4_Missense_Mutation_p.D270N|CYP4B1_uc009vym.3_Missense_Mutation_p.D256N|CYP4B1_uc010omk.2_Missense_Mutation_p.D107N|CYP4B1_uc010oml.1_Missense_Mutation_p.D108N	NM_001099772	NP_001093242	P13584	CP4B1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily B, polypeptide 1 (CYP4B1), transcript variant 1, mRNA.	270					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.E271*(1)		NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					AGCCCTGCAGGATGAGAAGGT	0.577000														24			28		0	0	1	0	0
CYP4F2	8529	broad.mit.edu	37	19	16000503	16000503	+	Splice_Site	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:16000503C>T	uc002nbs.1	-	7	698	c.648_splice	c.e7-1	p.E216_splice	CYP4F2_uc010xot.1_Splice_Site_p.E67_splice|CYP4F2_uc010xou.1_Splice_Site_p.E67_splice	NM_001082	NP_001073	P78329	CP4F2_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 2 (CYP4F2), mRNA.	216					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CACTGGGTTTCCTGCAGGATA	0.468000														67			40		0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147914489	147914489	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:147914489G>A	uc003weu.2	+	18	3636	c.3120G>A	c.(3118-3120)caG>caA	p.Q1040Q		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	1040					behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CCGACCAGCAGAACTCCCACC	0.542000										HNSCC(39;0.1)				127			73		0	0	1	0	0
BNC2	54796	broad.mit.edu	37	9	16437221	16437221	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:16437221G>A	uc003zml.3	-	5	1111	c.971C>T	c.(970-972)cCa>cTa	p.P324L	BNC2_uc011lmw.2_Missense_Mutation_p.P229L|BNC2_uc003zmm.3_Missense_Mutation_p.P282L|BNC2_uc003zmq.1_Missense_Mutation_p.P338L|BNC2_uc003zmr.1_Missense_Mutation_p.P361L|BNC2_uc003zmp.1_Missense_Mutation_p.P352L|BNC2_uc010mij.1_Missense_Mutation_p.P246L|BNC2_uc011lmv.2_Missense_Mutation_p.P150L|BNC2_uc003zmo.1_Missense_Mutation_p.P246L|BNC2_uc003zmj.3_Missense_Mutation_p.P89L|BNC2_uc003zmk.3_Non-coding_Transcript|BNC2_uc003zmi.3_Missense_Mutation_p.P89L|BNC2_uc003zmn.1_Missense_Mutation_p.P89L	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	Homo sapiens basonuclin 2 (BNC2), mRNA.	324					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		GTACTGGAATGGAAGCAGAAA	0.522000														157			83		0	0	1	0	0
MLL3	58508	broad.mit.edu	37	7	151970854	151970854	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:151970854G>A	uc003wla.3	-	6	1167	c.948C>T	c.(946-948)acC>acT	p.T316T		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	316			T -> S (in dbSNP:rs10454320).		intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	p.T316S(1)|p.G315G(1)		NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		AATCCTGAAAGGTGCCGGCTC	0.433000			N		medulloblastoma									258			7		0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10348560	10348560	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:10348560G>A	uc002gmn.3	-	35	5400	c.5289C>T	c.(5287-5289)atC>atT	p.I1763I	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1763					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TTACATCAGTGATGGCCTTCT	0.448000														80			48		0	0	1	0	0
CRISP3	10321	broad.mit.edu	37	6	49696509	49696509	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:49696509G>A	uc021zai.1	-	7	829	c.741C>T	c.(739-741)acC>acT	p.T247T	CRISP3_uc003ozs.3_Silent_p.T237T	NM_001190986	NP_001177915	P54108	CRIS3_HUMAN	Homo sapiens cysteine-rich secretory protein 3 (CRISP3), transcript variant 2, mRNA.	224					innate immune response	proteinaceous extracellular matrix|specific granule		p.T224T(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			GATGTTTACAGGTTAATGTGA	0.378000														98			37		0	0	1	0	0
GIMAP2	26157	broad.mit.edu	37	7	150389873	150389873	+	Missense_Mutation	SNP	G	A	A	rs150902506	byFrequency	TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:150389873G>A	uc003who.3	+	2	587	c.499G>A	c.(499-501)Gcc>Acc	p.A167T		NM_015660	NP_056475	Q9UG22	GIMA2_HUMAN	Homo sapiens GTPase, IMAP family member 2 (GIMAP2), mRNA.	167						integral to membrane	GTP binding			kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGATAACAAAGCCCTAAGCAA	0.498000														57			59		0	0	1	0	0
TREML4	285852	broad.mit.edu	37	6	41197258	41197258	+	Splice_Site	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:41197258G>A	uc003oqc.3	+	3	499	c.395_splice	c.e3-1	p.A132_splice	TREML4_uc003oqd.3_Splice_Site	NM_198153	NP_937796	Q6UXN2	TRML4_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells-like 4 (TREML4), mRNA.	132						extracellular region				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|skin(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.196)					TTTCTCTTTAGCCCCAACCAC	0.572000														168			122		0	0	1	0	0
ZNF583	147949	broad.mit.edu	37	19	56935700	56935700	+	Nonsense_Mutation	SNP	C	G	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:56935700C>G	uc010ygl.1	+	4	1838	c.1673C>G	c.(1672-1674)tCa>tGa	p.S558*	ZNF583_uc002qnc.2_Nonsense_Mutation_p.S558*|ZNF583_uc010ygm.1_Nonsense_Mutation_p.S558*	NM_001159860	NP_689691	Q96ND8	ZN583_HUMAN	Homo sapiens zinc finger protein 583 (ZNF583), transcript variant 2, mRNA.	558					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		ccctccacatcaaatcagttg	0.438000														8			4		0	0	1	0	0
SAMD4B	55095	broad.mit.edu	37	19	39866396	39866396	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:39866396C>T	uc002olb.3	+	6	1809	c.774C>T	c.(772-774)gcC>gcT	p.A258A	SAMD4B_uc002ola.3_Silent_p.A258A	NM_018028	NP_060498	Q5PRF9	SMAG2_HUMAN	Homo sapiens sterile alpha motif domain containing 4B (SAMD4B), mRNA.	258							protein binding	p.G257R(1)		autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			AGCTTGGGGCCCGGGCTGCTT	0.652000														71			45		0	0	1	0	0
BCAM	4059	broad.mit.edu	37	19	45317449	45317449	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:45317449C>T	uc002ozu.3	+	6	869	c.825C>T	c.(823-825)tcC>tcT	p.S275S	BCAM_uc002ozt.1_Silent_p.S275S	NM_005581	NP_005572	P50895	BCAM_HUMAN	Homo sapiens basal cell adhesion molecule (Lutheran blood group) (BCAM), transcript variant 1, mRNA.	275	Ig-like C2-type 1.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				GCAGCCCGTCCACCCCAGCAG	0.637000														48			58		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21233980	21233980	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:21233980C>T	uc002red.3	-	25	5888	c.5760G>A	c.(5758-5760)tgG>tgA	p.W1920*		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1920					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.W1920C(2)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TATGTTCTCCCCAGAGAGCGA	0.458000														127			62		0	0	1	0	0
RTDR1	27156	broad.mit.edu	37	22	23406278	23406278	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr22:23406278G>A	uc002zwt.3	-	4	613	c.455C>T	c.(454-456)tCc>tTc	p.S152F		NM_014433	NP_055248	Q9UHP6	RTDR1_HUMAN	Homo sapiens rhabdoid tumor deletion region gene 1 (RTDR1), mRNA.	152							binding			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		TACCAGTGAGGAAATCAGACC	0.602000														61			18		0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80730314	80730314	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:80730314C>T	uc001szd.3	+	38	4701	c.4695C>T	c.(4693-4695)atC>atT	p.I1565I		NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TTGCTCATATCGAAAAATGTT	0.328000														20			10		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41427717	41427717	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr21:41427717C>T	uc002yyq.1	-	28	5422	c.4970G>A	c.(4969-4971)cGa>cAa	p.R1657Q	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1657					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GATGTGCATTCGCAGGGTCTG	0.448000														116			59		0	0	1	0	0
SLC22A6	9356	broad.mit.edu	37	11	62752115	62752115	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:62752115G>A	uc001nwk.3	-	0	381	c.48C>T	c.(46-48)ttC>ttT	p.F16F	SLC22A6_uc001nwl.3_Silent_p.F16F|SLC22A6_uc001nwj.3_Silent_p.F16F|SLC22A6_uc001nwm.3_Silent_p.F16F	NM_004790	NP_004781	Q4U2R8	S22A6_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 6 (SLC22A6), transcript variant 1, mRNA.	16					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GGATCTGCTGGAAGCGGCCGA	0.647000														10			4		0	0	1	0	0
NKAIN2	154215	broad.mit.edu	37	6	124979437	124979437	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:124979437G>A	uc003pzo.3	+	3	656	c.379G>A	c.(379-381)Gcc>Acc	p.A127T	NKAIN2_uc003pzn.1_Missense_Mutation_p.A127T|NKAIN2_uc010keq.3_Intron|NKAIN2_uc003pzp.3_Missense_Mutation_p.A126T|NKAIN2_uc010ker.3_Missense_Mutation_p.A37T	NM_001040214	NP_001035304	Q5VXU1	NKAI2_HUMAN	Homo sapiens Na+/K+ transporting ATPase interacting 2 (NKAIN2), transcript variant 1, mRNA.	127						integral to membrane|plasma membrane				cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2)	19				GBM - Glioblastoma multiforme(226;0.104)		CCCAGACTGGGCCCCAGAAGA	0.507000														19			29		0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179604914	179604914	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:179604914C>T	uc010pnp.2	+	8	1930	c.1412C>T	c.(1411-1413)tCc>tTc	p.S471F	TDRD5_uc021pfm.1_Missense_Mutation_p.S471F|TDRD5_uc001gnf.2_Missense_Mutation_p.S471F|TDRD5_uc021pfn.1_Missense_Mutation_p.S471F|TDRD5_uc001gnh.2_Missense_Mutation_p.S26F	NM_001199085	NP_001186014	Q8NAT2	TDRD5_HUMAN	Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.	471					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						GACACCAGTTCCCTCATAGGG	0.453000														39			24		0	0	1	0	0
OR2W1	26692	broad.mit.edu	37	6	29012589	29012589	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:29012589G>A	uc003nlw.2	-	0	364	c.364C>T	c.(364-366)Cgt>Tgt	p.R122C	LOC100129636_uc021ytq.1_Intron	NM_030903	NP_112165	Q9Y3N9	OR2W1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 1 (OR2W1), mRNA.	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R122G(2)|p.R122S(2)		endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						GCTGTAAAACGATCATAGGAC	0.398000														82			16		0	0	1	0	0
V_alpha_immunoglobulin	0	broad.mit.edu	37	14	22675459	22675459	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:22675459G>A	uc001wdk.2	+	0	42	c.30G>A	c.(28-30)ggG>ggA	p.G10G	TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc001wdd.2_Intron|TCRA_uc010ajj.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajl.1_Intron|AV4S1_uc021rpv.1_Intron					Homo sapiens mRNA for T cell receptor alpha variable 34, partial cds, clone: SEB 406.																		TACTCCTAGGGATATTGGGGT	0.453000														32			28		0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155237102	155237102	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:155237102C>T	uc003inw.2	-	14	3693	c.3693G>A	c.(3691-3693)atG>atA	p.M1231I		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	1231	Cadherin 10.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GCTGAGTTTTCATTTCATAAT	0.378000														34			11		0	0	1	0	0
CLRN3	119467	broad.mit.edu	37	10	129682000	129682000	+	Silent	SNP	G	A	A	rs145523376		TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:129682000G>A	uc001lka.1	-	1	532	c.369C>T	c.(367-369)ttC>ttT	p.F123F	CLRN3_uc001ljz.1_Silent_p.F55F	NM_152311	NP_689524	Q8NCR9	CLRN3_HUMAN	Homo sapiens clarin 3 (CLRN3), mRNA.	123						integral to membrane				endometrium(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6		all_epithelial(44;0.00168)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)|Colorectal(57;0.235)				TCGGCCCCAGGAATGTCTGGT	0.567000														54			27		0	0	1	0	0
GAD1	2571	broad.mit.edu	37	2	171687681	171687681	+	Missense_Mutation	SNP	T	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:171687681T>A	uc002ugi.3	+	4	948	c.526T>A	c.(526-528)Ttg>Atg	p.L176M	GAD1_uc002ugh.3_Missense_Mutation_p.L176M	NM_000817	NP_000808	Q99259	DCE1_HUMAN	Homo sapiens glutamate decarboxylase 1 (brain, 67kDa) (GAD1), transcript variant GAD67, mRNA.	176					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CAGAGACACCTTGAAGTATGG	0.547000														94			28		0	0	1	0	0
BAZ2A	11176	broad.mit.edu	37	12	57007848	57007848	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:57007848G>A	uc001slq.1	-	3	1005	c.811C>T	c.(811-813)Cct>Tct	p.P271S	BAZ2A_uc001slp.1_Missense_Mutation_p.P269S|BAZ2A_uc009zow.1_Missense_Mutation_p.P239S	NM_013449	NP_038477	Q9UIF9	BAZ2A_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 2A (BAZ2A), mRNA.	271					DNA methylation|chromatin silencing at rDNA|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|RNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						GTGGGGTCAGGGACCAGGACT	0.488000														58			26		0	0	1	0	0
SV2A	9900	broad.mit.edu	37	1	149879677	149879677	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:149879677G>A	uc001etg.3	-	8	1952	c.1461C>T	c.(1459-1461)ttC>ttT	p.F487F	SV2A_uc009wlk.3_5'Flank|SV2A_uc001eth.2_Silent_p.F487F	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2A (SV2A), mRNA.	487					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	p.V486M(2)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	GCTCCCCGGGGAACACTTTGG	0.517000														97			62		0	0	1	0	0
KCNMB2	10242	broad.mit.edu	37	3	178543421	178543421	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:178543421G>A	uc003fjd.3	+	2	445	c.102G>A	c.(100-102)agG>agA	p.R34R	AF279780_uc003fjb.1_Intron|AF279780_uc003fjc.1_Intron|KCNMB2_uc003fje.3_Silent_p.R34R|KCNMB2_uc003fjf.3_Silent_p.R34R|KCNMB2_uc011bqa.2_Silent_p.R34R|KCNMB2_uc011bqb.2_Intron	NM_181361	NP_852006	Q9Y691	KCMB2_HUMAN	Homo sapiens potassium large conductance calcium-activated channel, subfamily M, beta member 2 (KCNMB2), transcript variant 1, mRNA.	34	Ball and chain.				detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of vasoconstriction	voltage-gated potassium channel complex	calcium-activated potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity			NS(2)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12	all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125)		OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841)			TGGACAAAAGGAAAACAGTCA	0.433000														91			34		0	0	1	0	0
OR8I2	120586	broad.mit.edu	37	11	55861129	55861129	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:55861129G>A	uc010rix.2	+	0	346	c.346G>A	c.(346-348)Gga>Aga	p.G116R		NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily I, member 2 (OR8I2), mRNA.	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					TTTCCTTCTGGGATCAATGGC	0.428000														71			43		0	0	1	0	0
TAB1	10454	broad.mit.edu	37	22	39814834	39814835	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr22:39814834_39814835CC>TT	uc003axt.3	+	5	697_698	c.648_649CC>TT	c.(646-651)ttccgt>ttTTgt	p.R217C	TAB1_uc003axr.3_Missense_Mutation_p.R293C|TAB1_uc011aok.2_Missense_Mutation_p.R51C|TAB1_uc003axu.1_Missense_Mutation_p.R217C	NM_006116	NP_006107	Q15750	TAB1_HUMAN	Homo sapiens TGF-beta activated kinase 1/MAP3K7 binding protein 1 (TAB1), transcript variant alpha, mRNA.	217	PP2C-like.				I-kappaB kinase/NF-kappaB cascade|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|activation of MAPKKK activity|innate immune response|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane	catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						ATGAGCTCTTCCGTCTTTCGCA	0.579000														96			26		0	0	1	0	0
LOC100132247	0	broad.mit.edu	37	16	21854860	21854860	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:21854860G>A	uc002djr.3	-	5	574	c.392C>T	c.(391-393)tCc>tTc	p.S131F	LOC100132247_uc002djs.3_Non-coding_Transcript|LOC100132247_uc002djq.3_Missense_Mutation_p.S112F|LOC100132247_uc010vbn.1_Missense_Mutation_p.S131F	NM_001135865	NP_001129337			Homo sapiens nuclear pore complex interacting protein related gene (LOC100132247), mRNA.																		TCCTCGAAAGGAAGAAACTCT	0.428000														150			31		0	0	1	0	0
DACT1	51339	broad.mit.edu	37	14	59112062	59112062	+	Missense_Mutation	SNP	T	C	C			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:59112062T>C	uc001xdw.3	+	3	885	c.721T>C	c.(721-723)Ttt>Ctt	p.F241L	DACT1_uc010trv.2_Intron|DACT1_uc001xdx.3_Intron|DACT1_uc010trw.2_Intron	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN	Homo sapiens dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis) (DACT1), transcript variant 1, mRNA.	241					Wnt receptor signaling pathway|multicellular organismal development	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						CACACCACAATTTAATTCCCT	0.443000														52			31		0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14748562	14748562	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:14748562G>A	uc003zlm.3	-	31	6449	c.5633C>T	c.(5632-5634)cCc>cTc	p.P1878L	FREM1_uc010mic.3_Non-coding_Transcript|FREM1_uc003zlk.3_Intron|FREM1_uc003zll.3_Missense_Mutation_p.P414L	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	1878					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		AGACCCTGGGGGCAGCAGATG	0.537000														149			75		0	0	1	0	0
C4orf17	84103	broad.mit.edu	37	4	100443754	100443754	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:100443754G>A	uc003huw.3	+	2	587	c.225G>A	c.(223-225)agG>agA	p.R75R	C4orf17_uc003hux.3_Non-coding_Transcript	NM_032149	NP_115525	Q53FE4	CD017_HUMAN	Homo sapiens chromosome 4 open reading frame 17 (C4orf17), mRNA.	75								p.R75W(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		AGAAGAACAGGATACCATTTG	0.483000														61			21		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179434141	179434141	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:179434141C>T	uc021vsy.1	-	274	69239	c.69014G>A	c.(69013-69015)cGa>cAa	p.R23005Q	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R16700Q|TTN_uc021vta.1_Missense_Mutation_p.R16633Q|TTN_uc021vtb.1_Missense_Mutation_p.R16508Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	23932	Fibronectin type-III 67.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.L23004L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTATCATATCGGTTGACATT	0.423000														25			18		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38691134	38691134	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:38691134G>A	uc021yzh.1	+	2	521	c.412G>A	c.(412-414)Gaa>Aaa	p.E138K	DNAH8_uc003ooe.2_5'UTR	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGAGGCAAGGGAAAGCCGAAG	0.308000														18			98		0	0	1	0	0
USP44	84101	broad.mit.edu	37	12	95927690	95927690	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:95927690G>A	uc001teg.3	-	1	487	c.343C>T	c.(343-345)Cgt>Tgt	p.R115C	USP44_uc001teh.3_Missense_Mutation_p.R115C|USP44_uc009zte.3_Missense_Mutation_p.R112C	NM_001042403	NP_115523	Q9H0E7	UBP44_HUMAN	Homo sapiens ubiquitin specific peptidase 44 (USP44), transcript variant 2, mRNA.	115					anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						CTCCCACTACGAGTTGTGCAG	0.398000														41			19		0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55948164	55948164	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:55948164C>T	uc003has.3	-	28	4109	c.3807G>A	c.(3805-3807)ctG>ctA	p.L1269L	KDR_uc003hat.1_Silent_p.L1269L	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	1269					angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	CCAAAGTTTTCAGCTCTTCTG	0.368000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)				64			40		0	0	1	0	0
LRIT2	340745	broad.mit.edu	37	10	85984133	85984133	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:85984133G>A	uc010qmc.2	-	1	856	c.848C>T	c.(847-849)tCc>tTc	p.S283F	LRIT2_uc001kcy.3_Missense_Mutation_p.S283F	NM_001017924	NP_001017924	A6NDA9	LRIT2_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 2 (LRIT2), mRNA.	283	Ig-like.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						CCATGCAATGGATGGTGAGGG	0.532000														39			17		0	0	1	0	0
GCAT	23464	broad.mit.edu	37	22	38212210	38212210	+	Missense_Mutation	SNP	C	G	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr22:38212210C>G	uc003aua.2	+	7	1131	c.1068C>G	c.(1066-1068)ttC>ttG	p.F356L	GCAT_uc003atz.3_Missense_Mutation_p.F330L	NM_001171690	NP_001165161	O75600	KBL_HUMAN	Homo sapiens glycine C-acetyltransferase (GCAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	330					biosynthetic process|cellular amino acid metabolic process		glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CCCACAGGTTCCGTAGTAAGA	0.617000														25			15		0	0	1	0	0
DSG1	1828	broad.mit.edu	37	18	28934958	28934958	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr18:28934958G>A	uc002kwp.3	+	14	3011	c.2799G>A	c.(2797-2799)atG>atA	p.M933I	DSG1_uc010xbp.2_Missense_Mutation_p.M292I	NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	933					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			CTTCCGGCATGATAGGTAGTC	0.478000														137			184		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55539841	55539841	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:55539841C>T	uc003xsd.1	+	3	3547	c.3399C>T	c.(3397-3399)ctC>ctT	p.L1133L	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1133					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TAGCTTGGCTCTTGGTGCTAA	0.413000														19			56		0	0	1	0	0
FAM83F	113828	broad.mit.edu	37	22	40415935	40415935	+	Silent	SNP	C	T	T	rs142043340		TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr22:40415935C>T	uc003ayk.1	+	2	796	c.702C>T	c.(700-702)ccC>ccT	p.P234P		NM_138435	NP_612444	Q8NEG4	FA83F_HUMAN	Homo sapiens family with sequence similarity 83, member F (FAM83F), mRNA.	234										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						TCTACATGCCCATGGGGAGGA	0.587000														54			41		0	0	1	0	0
ANGPT1	284	broad.mit.edu	37	8	108509775	108509775	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:108509775G>A	uc003ymn.3	-	0	480	c.12C>T	c.(10-12)ttC>ttT	p.F4F	ANGPT1_uc003ymo.3_Silent_p.F4F	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	Homo sapiens angiopoietin 1 (ANGPT1), transcript variant 1, mRNA.	4					Tie receptor signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of ERK1 and ERK2 cascade|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			CAAAGGAAAGGAAAACTGTCA	0.458000														3			19		0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558218	140558218	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:140558218G>A	uc011dai.2	+	0	848	c.603G>A	c.(601-603)ctG>ctA	p.L201L	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	201	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACAAAGCGCTGGACCGAGAGG	0.532000														62			7		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13850924	13850924	+	Splice_Site	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:13850924C>T	uc003jfd.2	-	31	4993	c.4951_splice	c.e31-1	p.E1651_splice		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1651	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CGCTTGGCTTCCTATGAGAAC	0.453000									Kartagener syndrome					60			22		0	0	1	0	0
PTPN13	5783	broad.mit.edu	37	4	87671632	87671632	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:87671632C>T	uc003hpz.3	+	17	3140	c.2660C>T	c.(2659-2661)tCg>tTg	p.S887L	PTPN13_uc003hpy.3_Missense_Mutation_p.S887L|PTPN13_uc003hqa.3_Missense_Mutation_p.S887L|PTPN13_uc003hqb.3_Intron	NM_080683	NP_542414	Q12923	PTN13_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) (PTPN13), transcript variant 1, mRNA.	887						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity	p.S887L(4)		NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		GAGAGAGCTTCGTTTAGGAGC	0.413000														109			46		0	0	1	0	0
RASSF6	166824	broad.mit.edu	37	4	74450975	74450975	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:74450975C>T	uc003hhd.1	-	5	708	c.585G>A	c.(583-585)agG>agA	p.R195R	RASSF6_uc003hhc.1_Silent_p.R163R|RASSF6_uc010iik.1_Silent_p.R163R|RASSF6_uc010iil.1_Silent_p.R151R	NM_201431	NP_803876	Q6ZTQ3	RASF6_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 6 (RASSF6), transcript variant 2, mRNA.	195					apoptosis|signal transduction		protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			GAGGCTTCATCCTTTTTCTCA	0.413000														38			25		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179456708	179456708	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:179456708G>A	uc021vsy.1	-	250	52444	c.52219C>T	c.(52219-52221)Ctc>Ttc	p.L17407F	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.L11102F|TTN_uc021vta.1_Missense_Mutation_p.L11035F|TTN_uc021vtb.1_Missense_Mutation_p.L10910F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	18334	Fibronectin type-III 26.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACTTACGGAGAGGATCCAAA	0.413000														8			13		0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144940169	144940169	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:144940169G>A	uc003zaa.1	-	0	7266	c.7253C>T	c.(7252-7254)tCt>tTt	p.S2418F		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	2418						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCACTGTAGAGAGAGAGAAAG	0.507000														0			11		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179436191	179436191	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:179436191C>T	uc021vsy.1	-	274	67189	c.66964G>A	c.(66964-66966)Ggg>Agg	p.G22322R	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G16017R|TTN_uc021vta.1_Missense_Mutation_p.G15950R|TTN_uc021vtb.1_Missense_Mutation_p.G15825R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	23249	Fibronectin type-III 62.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTACTCTTCCCATATCTGTTT	0.448000														33			11		0	0	1	0	0
BV13S6J2.1	0	broad.mit.edu	37	7	142162336	142162336	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:142162336C>T	uc011krw.2	-	0	72	c.28G>A	c.(28-30)Gcc>Acc	p.A10T	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc022ani.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		AGAGGAAAGGCTGCACAGCAC	0.577000														69			12		0	0	1	0	0
C9orf86	55684	broad.mit.edu	37	9	139733736	139733736	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:139733736C>T	uc004cjj.1	+	11	2016	c.1559C>T	c.(1558-1560)cCc>cTc	p.P520L	C9orf86_uc004cji.1_Missense_Mutation_p.P519L|C9orf86_uc004cjk.1_Intron|C9orf86_uc004cjl.1_Intron|C9orf86_uc010nbs.1_Missense_Mutation_p.P404L|C9orf86_uc004cjn.1_Missense_Mutation_p.P313L	NM_001173988	NP_001167459	Q3YEC7	PARF_HUMAN	Homo sapiens chromosome 9 open reading frame 86 (C9orf86), transcript variant 3, mRNA.	519					small GTPase mediated signal transduction	cytoplasm|nucleus	GTP binding|protein binding			endometrium(4)|kidney(1)|lung(4)	9	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.61e-05)|Epithelial(140;0.000183)		GCAGCACCCCCCTGGCCAGGC	0.667000														6			3		0	0	1	0	0
AIM1	202	broad.mit.edu	37	6	106967703	106967703	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:106967703C>T	uc003prh.3	+	1	2308	c.1396C>T	c.(1396-1398)Ctt>Ttt	p.L466F		NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	Homo sapiens absent in melanoma 1 (AIM1), mRNA.	466							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		TGGGCCTTCTCTTTCACTGTC	0.488000														35			40		0	0	1	0	0
DIAPH3	81624	broad.mit.edu	37	13	60566687	60566687	+	Missense_Mutation	SNP	C	G	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr13:60566687C>G	uc001vht.3	-	9	1264	c.1045G>C	c.(1045-1047)Gtt>Ctt	p.V349L	DIAPH3_uc001vhu.3_Missense_Mutation_p.V86L|DIAPH3_uc001vhv.3_5'Flank|DIAPH3_uc001vhw.1_Missense_Mutation_p.V338L|DIAPH3_uc010aed.1_Missense_Mutation_p.V303L|DIAPH3_uc010aee.1_Missense_Mutation_p.V279L	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN	Homo sapiens diaphanous homolog 3 (Drosophila) (DIAPH3), transcript variant 1, mRNA.	349	GBD/FH3.				actin cytoskeleton organization		Rho GTPase binding|actin binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		GGAGATGTAACCAGGGCATTG	0.413000														39			3		0	0	1	0	0
ENTPD3	956	broad.mit.edu	37	3	40468954	40468954	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:40468954G>A	uc003ckd.4	+	10	1637	c.1545G>A	c.(1543-1545)aaG>aaA	p.K515K	ENTPD3_uc010hhy.3_Silent_p.K515K|ENTPD3-AS1_uc003cke.4_Intron	NM_001248	NP_001239	O75355	ENTP3_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 3 (ENTPD3), mRNA.	515						integral to membrane	ATP binding|hydrolase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)		CCAGAAGAAAGAGGCACTCCG	0.537000														42			8		0	0	1	0	0
PCCA	5095	broad.mit.edu	37	13	101167781	101167781	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr13:101167781C>T	uc001voo.3	+	21	2106	c.2000C>T	c.(1999-2001)cCc>cTc	p.P667L	PCCA_uc010aga.3_Missense_Mutation_p.P641L|PCCA_uc010tiz.2_Intron	NM_000282	NP_000273	P05165	PCCA_HUMAN	Homo sapiens propionyl CoA carboxylase, alpha polypeptide (PCCA), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	667	Biotinyl-binding.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	TCCCCGATGCCCGGAGTGGTG	0.522000											OREG0022490	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		61			34		0	0	1	0	0
MPST	4357	broad.mit.edu	37	22	37425309	37425309	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr22:37425309C>T	uc011amu.2	+	2	884	c.708C>T	c.(706-708)ttC>ttT	p.F236F	MPST_uc003aqi.1_3'UTR|MPST_uc003aqm.3_Silent_p.F216F|MPST_uc003aql.3_Silent_p.F216F|MPST_uc003aqj.3_Silent_p.F216F	NM_021126	NP_001123989	P25325	THTM_HUMAN	Homo sapiens mercaptopyruvate sulfurtransferase (MPST), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	216	Rhodanese 2.				cyanate catabolic process|response to toxin		3-mercaptopyruvate sulfurtransferase activity|thiosulfate sulfurtransferase activity			central_nervous_system(2)|kidney(1)|lung(2)|prostate(1)|skin(1)	7						TCACAGACTTCCTGAGCCAGG	0.572000														34			17		0	0	1	0	0
PCDH20	64881	broad.mit.edu	37	13	61985978	61985978	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr13:61985978G>A	uc001vid.4	-	1	2618	c.2254C>T	c.(2254-2256)Ctg>Ttg	p.L752L	PCDH20_uc010thj.2_Silent_p.L752L	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	Homo sapiens protocadherin 20 (PCDH20), mRNA.	725	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		AGTACTAACAGATAAGACATA	0.443000														58			32		0	0	1	0	0
ZNF514	84874	broad.mit.edu	37	2	95815934	95815934	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:95815934G>A	uc002sud.1	-	4	886	c.515C>T	c.(514-516)tCa>tTa	p.S172L	ZNF514_uc002sue.1_Missense_Mutation_p.S99L	NM_032788	NP_116177	Q96K75	ZN514_HUMAN	Homo sapiens zinc finger protein 514 (ZNF514), mRNA.	99					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(4)|lung(6)|urinary_tract(1)	11						TTTTTCCACTGATACTACCTG	0.393000														156			74		0	0	1	0	0
MUC15	143662	broad.mit.edu	37	11	26587205	26587205	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:26587205G>A	uc001mqw.3	-	2	555	c.282C>T	c.(280-282)ctC>ctT	p.L94L	ANO3_uc010rdr.2_Intron|ANO3_uc001mqt.4_Intron|ANO3_uc010rds.2_Intron|ANO3_uc010rdt.2_Intron|MUC15_uc001mqx.3_Silent_p.L67L|MUC15_uc001mqy.3_Silent_p.L94L	NM_001135091	NP_663625	Q8N387	MUC15_HUMAN	Homo sapiens mucin 15, cell surface associated (MUC15), transcript variant 1, mRNA.	67						extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						GACTCGCCTTGAGATTTGAGG	0.373000														34			27		0	0	1	0	0
RNF219	79596	broad.mit.edu	37	13	79190715	79190715	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr13:79190715G>A	uc001vkw.1	-	5	1240	c.1181C>T	c.(1180-1182)tCc>tTc	p.S394F	BX647243_uc001vku.1_Non-coding_Transcript|RNF219_uc010afb.1_Missense_Mutation_p.S204F	NM_024546	NP_078822	Q5W0B1	RN219_HUMAN	Homo sapiens ring finger protein 219 (RNF219), mRNA.	394							zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		GCAACTAAGGGACAAAGGAGT	0.428000														55			23		0	0	1	0	0
DIO3	1735	broad.mit.edu	37	14	102028471	102028471	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:102028471C>T	uc021sdx.1	+	0	784	c.638C>T	c.(637-639)cCc>cTc	p.P213L	DIO3AS_uc001ykd.1_5'Flank|DIO3OS_uc001yke.3_5'Flank|DIO3AS_uc001ykf.3_5'Flank|DIO3AS_uc001ykg.3_5'Flank|DIO3AS_uc001ykh.3_5'Flank|DIO3AS_uc021sdw.1_5'Flank	NM_001362	NP_001353	P55073	IOD3_HUMAN	Homo sapiens deiodinase, iodothyronine, type III (DIO3), mRNA.	187					cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				ACGGACTCTCCCTACATCATC	0.637000														63			40		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141754666	141754666	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:141754666C>T	uc003vwy.3	+	26	3326	c.3272C>T	c.(3271-3273)cCa>cTa	p.P1091L		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1091	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AAGAAGAATCCATTTGGGATT	0.488000														121			30		0	0	1	0	0
IL7R	3575	broad.mit.edu	37	5	35873648	35873648	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:35873648G>A	uc003jjs.3	+	4	693	c.604G>A	c.(604-606)Gag>Aag	p.E202K	IL7R_uc011coo.2_Missense_Mutation_p.E202K|IL7R_uc011cop.2_Intron	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Homo sapiens interleukin 7 receptor (IL7R), mRNA.	202	Fibronectin type-III.				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity	p.E202K(2)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			AGCAATGTATGAGATTAAAGT	0.418000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency							27			20		0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8317926	8317926	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:8317926G>A	uc003zkk.3	-	45	6430	c.5687C>T	c.(5686-5688)tCc>tTc	p.S1896F	PTPRD_uc003zkp.3_Missense_Mutation_p.S1490F|PTPRD_uc003zkq.3_Missense_Mutation_p.S1489F|PTPRD_uc003zkr.3_Missense_Mutation_p.S1480F|PTPRD_uc003zks.3_Missense_Mutation_p.S1489F|PTPRD_uc022bdj.1_Missense_Mutation_p.S1486F	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	1896	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GGCACGATAGGAAAACTGATA	0.408000										TSP Lung(15;0.13)				78			35		0	0	1	0	0
GYPE	2996	broad.mit.edu	37	4	144826653	144826653	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:144826653C>T	uc003ijj.3	-	0	64	c.8G>A	c.(7-9)gGa>gAa	p.G3E	GYPE_uc003ijk.4_Missense_Mutation_p.G3E	NM_198682	NP_941391	P15421	GLPE_HUMAN	Homo sapiens glycophorin E (MNS blood group) (GYPE), transcript variant 2, mRNA.	3						integral to plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	all_hematologic(180;0.158)					GATTATTTTTCCATACATCCT	0.373000														44			18		0	0	1	0	0
CDHR5	53841	broad.mit.edu	37	11	621573	621573	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:621573C>T	uc001lql.3	-	4	763	c.496G>A	c.(496-498)Gaa>Aaa	p.E166K	CDHR5_uc001lqj.3_Missense_Mutation_p.E166K|CDHR5_uc009ycd.3_Missense_Mutation_p.E166K|CDHR5_uc001lqk.3_Missense_Mutation_p.E166K|CDHR5_uc009ycc.3_5'UTR|CDHR5_uc001lqm.2_5'UTR|CDHR5_uc009yce.1_Missense_Mutation_p.E135K	NM_021924	NP_068743	Q9HBB8	CDHR5_HUMAN	Homo sapiens cadherin-related family member 5 (CDHR5), transcript variant 1, mRNA.	166	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						GCTGTCATTTCCTGGAGGGTG	0.637000														61			31		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89990217	89990217	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:89990217G>A	uc003kju.3	+	32	7740	c.7644G>A	c.(7642-7644)atG>atA	p.M2548I	GPR98_uc003kjt.3_Missense_Mutation_p.M254I|GPR98_uc003kjv.3_Missense_Mutation_p.M148I	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	2548					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTCACCTCATGAACATTTCAG	0.393000														58			17		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9077510	9077510	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:9077510G>A	uc002mkp.3	-	2	10140	c.9936C>T	c.(9934-9936)tcC>tcT	p.S3312S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3313	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGGAGACAGAGGACATTGTGG	0.522000														54			22		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215844624	215844624	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:215844624C>T	uc001hku.1	-	63	14210	c.13823G>A	c.(13822-13824)cGa>cAa	p.R4608Q		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	4608	Fibronectin type-III 31.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CGCTTGAATTCGTATTTCATA	0.418000										HNSCC(13;0.011)				42			26		0	0	1	0	0
TRIM15	89870	broad.mit.edu	37	6	30131690	30131690	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:30131690C>T	uc010jrx.3	+	0	708	c.229C>T	c.(229-231)Ccg>Tcg	p.P77S	TRIM10_uc003npn.2_5'Flank|TRIM10_uc003npo.3_5'Flank	NM_033229	NP_150232	Q9C019	TRI15_HUMAN	Homo sapiens tripartite motif containing 15 (TRIM15), mRNA.	77					mesodermal cell fate determination	intracellular	zinc ion binding			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						GCCCCTGGGCCCGCTGGGAGA	0.627000														11			53		0	0	1	0	0
FAIM	55179	broad.mit.edu	37	3	138340314	138340314	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:138340314G>A	uc003esr.3	+	1	304	c.44G>A	c.(43-45)gGa>gAa	p.G15E	FAIM_uc003eso.1_Missense_Mutation_p.G49E|FAIM_uc003esq.3_Missense_Mutation_p.G37E|FAIM_uc003esp.3_Missense_Mutation_p.G49E|FAIM_uc003ess.3_Missense_Mutation_p.G15E	NM_001033032	NP_060617	Q9NVQ4	FAIM1_HUMAN	Homo sapiens Fas apoptotic inhibitory molecule (FAIM), transcript variant 3, mRNA.	15					apoptosis	cytoplasm				kidney(1)|upper_aerodigestive_tract(1)	2						TTAAGTGACGGAGTCCACAAG	0.373000														40			36		0	0	1	0	0
C16orf54	283897	broad.mit.edu	37	16	29755631	29755631	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:29755631C>T	uc002dtp.2	-	1	751	c.642G>A	c.(640-642)tgG>tgA	p.W214*	BOLA2_uc010bzb.1_Intron|BC041466_uc002dtq.1_5'Flank	NM_175900	NP_787096	Q6UWD8	CP054_HUMAN	Homo sapiens chromosome 16 open reading frame 54 (C16orf54), mRNA.	214						integral to membrane				breast(1)|central_nervous_system(1)|lung(2)|prostate(1)|urinary_tract(1)	6						CTTCACGCTTCCAGAAAGCTG	0.667000														13			7		0	0	1	0	0
C1orf177	163747	broad.mit.edu	37	1	55282712	55282712	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:55282712G>A	uc001cyb.4	+	8	1155	c.1101G>A	c.(1099-1101)aaG>aaA	p.K367K	C1orf177_uc001cya.4_Silent_p.K367K	NM_001110533	NP_001104003	Q3ZCV2	CA177_HUMAN	Homo sapiens chromosome 1 open reading frame 177 (C1orf177), transcript variant 2, mRNA.	367										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						TGGAGACAAAGGACAGGCGGC	0.577000														29			13		0	0	1	0	0
TMPRSS11E	28983	broad.mit.edu	37	4	69343323	69343323	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:69343323G>A	uc003hdz.4	+	7	1008	c.944G>A	c.(943-945)gGa>gAa	p.G315E		NM_014058	NP_054777	Q9UL52	TM11E_HUMAN	Homo sapiens transmembrane protease, serine 11E (TMPRSS11E), mRNA.	315	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						TTTGTGACAGGATTTGGAGCA	0.403000														239			122		0	0	1	0	0
CORO7-PAM16	100529144	broad.mit.edu	37	16	4414375	4414375	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:4414375G>A	uc002cwf.3	-	13	1620	c.1177C>T	c.(1177-1179)Ccg>Tcg	p.P393S	CORO7-PAM16_uc002cwe.3_Non-coding_Transcript|CORO7-PAM16_uc002cwg.4_Missense_Mutation_p.P173S|CORO7-PAM16_uc002cwh.4_Missense_Mutation_p.P393S|CORO7-PAM16_uc010uxh.2_Missense_Mutation_p.P375S|CORO7-PAM16_uc010uxi.2_Missense_Mutation_p.P308S|CORO7-PAM16_uc002cwi.1_Missense_Mutation_p.P173S|CORO7-PAM16_uc010uxj.1_Non-coding_Transcript|CORO7-PAM16_uc010btp.1_Missense_Mutation_p.P173S	NM_001201479	NP_001188408			Homo sapiens CORO7-PAM16 readthrough (CORO7-PAM16), mRNA.																		GTGAAGCTCGGGTGGGGCCGG	0.697000														7			5		0	0	1	0	0
KLC4	89953	broad.mit.edu	37	6	43029218	43029218	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:43029218C>T	uc003otw.1	+	1	518	c.199C>T	c.(199-201)Cag>Tag	p.Q67*	KLC4_uc003otr.1_Non-coding_Transcript|MRPL2_uc003ots.1_5'Flank|MRPL2_uc011dvc.2_5'Flank|MRPL2_uc010jyi.3_5'Flank|MRPL2_uc003ott.4_5'Flank|KLC4_uc003otu.3_Nonsense_Mutation_p.Q49*|KLC4_uc003otv.1_Nonsense_Mutation_p.Q49*|KLC4_uc011dvd.1_Nonsense_Mutation_p.Q49*|KLC4_uc003otx.1_Nonsense_Mutation_p.Q49*|KLC4_uc003oty.1_Nonsense_Mutation_p.Q49*|KLC4_uc003otz.1_Nonsense_Mutation_p.Q49*	NM_201523	NP_958930	Q9NSK0	KLC4_HUMAN	Homo sapiens kinesin light chain 4 (KLC4), transcript variant 3, mRNA.	49						cytoplasm|kinesin complex|microtubule	microtubule motor activity|protein binding			endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4)	23			all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)			AAGCCTGTCCCAGACCATTGA	0.617000														34			11		0	0	1	0	0
LILRP2	79166	broad.mit.edu	37	19	55220379	55220379	+	RNA	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:55220379C>T	uc002qgs.1	+	0		c.779C>T			LILRP2_uc002qgt.1_Intron					Homo sapiens leukocyte immunoglobulin-like receptor pseudogene 2 (LILRP2), non-coding RNA.																		CCTGTGGTTTCTTCCAGGGAC	0.612000														6			4		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	39051792	39051792	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:39051792C>T	uc002oit.3	+	89	12452	c.12322C>T	c.(12322-12324)Cag>Tag	p.Q4108*	RYR1_uc002oiu.3_Nonsense_Mutation_p.Q4103*|RYR1_uc002oiv.1_Nonsense_Mutation_p.Q1017*	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	4108					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TCCAGAAATCCAGTTCCTGCT	0.567000														34			15		0	0	1	0	0
AIM1	202	broad.mit.edu	37	6	106967931	106967931	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:106967931C>T	uc003prh.3	+	1	2536	c.1624C>T	c.(1624-1626)Cca>Tca	p.P542S		NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	Homo sapiens absent in melanoma 1 (AIM1), mRNA.	542							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		AAGTGAGTGTCCATCCAGAGT	0.532000														8			16		0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147336367	147336367	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:147336367C>T	uc003weu.2	+	12	2583	c.2067C>T	c.(2065-2067)ttC>ttT	p.F689F		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	689	Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TCTCCTATTTCTGCAAGATGT	0.448000										HNSCC(39;0.1)				62			16		0	0	1	0	0
GAD2	2572	broad.mit.edu	37	10	26513530	26513530	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:26513530G>A	uc001isp.2	+	5	1177	c.674G>A	c.(673-675)aGa>aAa	p.R225K	GAD2_uc001isq.2_Missense_Mutation_p.R225K	NM_001134366	NP_001127838	Q05329	DCE2_HUMAN	Homo sapiens glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) (GAD2), transcript variant 2, mRNA.	225					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	Golgi membrane|cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	AAGAAAATGAGAGAAATCATT	0.388000														66			33		0	0	1	0	0
PROSER1	80209	broad.mit.edu	37	13	39587713	39587713	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr13:39587713G>A	uc001uwy.3	-	10	2549	c.1676C>T	c.(1675-1677)tCt>tTt	p.S559F	PROSER1_uc001uwz.3_Missense_Mutation_p.S537F	NM_025138	NP_079414	Q86XN7	CM023_HUMAN	Homo sapiens proline and serine rich 1 (PROSER1), transcript variant 1, mRNA.	559	Ser-rich.																GGCTAAAGGAGACTGTACAGG	0.597000														48			19		0	0	1	0	0
REV1	51455	broad.mit.edu	37	2	100020194	100020194	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:100020194C>A	uc002tad.3	-	18	3342	c.3130G>T	c.(3130-3132)Gag>Tag	p.E1044*	REV1_uc002tac.3_Nonsense_Mutation_p.E1043*	NM_016316	NP_057400	Q9UBZ9	REV1_HUMAN	Homo sapiens REV1 homolog (S. cerevisiae) (REV1), transcript variant 1, mRNA.	1044					DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	DNA-directed DNA polymerase activity|damaged DNA binding|magnesium ion binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTGCTGTTCTCGCCCTGCCTT	0.498000								Direct reversal of damage						69			44		1.61742e-36	1.64774e-36	1	1	0
YPEL5	51646	broad.mit.edu	37	2	30379532	30379532	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:30379532C>T	uc002rna.4	+	3	576	c.15C>T	c.(13-15)ttC>ttT	p.F5F	YPEL5_uc002rnb.4_Silent_p.F5F|YPEL5_uc002rnc.4_Silent_p.F5F|YPEL5_uc002rmz.4_Silent_p.F5F|YPEL5_uc010ezn.3_Intron|YPEL5_uc002rnd.3_Silent_p.F5F	NM_001127401	NP_057145	P62699	YPEL5_HUMAN	Homo sapiens yippee-like 5 (Drosophila) (YPEL5), transcript variant 1, mRNA.	5							peptide-methionine-(S)-S-oxide reductase activity	p.F5F(2)		NS(1)|endometrium(1)|kidney(1)|lung(3)|prostate(1)	7	Acute lymphoblastic leukemia(172;0.155)					GCAGAATTTTCCTTGATCATA	0.418000														75			35		0	0	1	0	0
APLF	200558	broad.mit.edu	37	2	68772326	68772326	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:68772326C>T	uc002sep.3	+	7	1341	c.1168C>T	c.(1168-1170)Cct>Tct	p.P390S	APLF_uc002seq.1_Non-coding_Transcript|APLF_uc010fdf.2_Missense_Mutation_p.P366S|APLF_uc002ser.1_Missense_Mutation_p.P121S	NM_173545	NP_775816	Q8IW19	APLF_HUMAN	Homo sapiens aprataxin and PNKP like factor (APLF), mRNA.	390					double-strand break repair|single strand break repair	cytosol|nucleus	3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						TAGGAAGAATCCTGTTCATTT	0.408000														52			23		0	0	1	0	0
OFD1	8481	broad.mit.edu	37	X	13786245	13786245	+	Missense_Mutation	SNP	A	G	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:13786245A>G	uc004cvp.4	+	20	3189	c.2830A>G	c.(2830-2832)Aat>Gat	p.N944D	OFD1_uc004cvr.4_Missense_Mutation_p.N474D|OFD1_uc011mil.2_Missense_Mutation_p.N511D|OFD1_uc004cvq.4_Missense_Mutation_p.N767D|OFD1_uc010nen.3_Missense_Mutation_p.N942D|OFD1_uc004cvs.4_Non-coding_Transcript|OFD1_uc004cvu.4_Missense_Mutation_p.N903D|OFD1_uc004cvv.4_Missense_Mutation_p.N902D	NM_003611	NP_003602	O75665	OFD1_HUMAN	Homo sapiens oral-facial-digital syndrome 1 (OFD1), mRNA.	944	Mediates the interaction with SDCCAG8.				G2/M transition of mitotic cell cycle|cilium movement involved in determination of left/right asymmetry	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						AGAAATGAGTAATCAAGAAAT	0.323000														7			12		0	0	1	0	0
ENPP4	22875	broad.mit.edu	37	6	46107842	46107842	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:46107842G>A	uc003oxy.3	+	1	781	c.522G>A	c.(520-522)tcG>tcA	p.S174S		NM_014936	NP_055751	Q9Y6X5	ENPP4_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative) (ENPP4), mRNA.	174						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						TAAACAATTCGAACCCACCAG	0.388000														133			31		0	0	1	0	0
KIAA1522	57648	broad.mit.edu	37	1	33236975	33236975	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:33236975C>T	uc001bvu.1	+	5	2239	c.2195C>T	c.(2194-2196)tCc>tTc	p.S732F	KIAA1522_uc010ohm.1_Missense_Mutation_p.S684F|KIAA1522_uc001bvv.2_Missense_Mutation_p.S673F|KIAA1522_uc010ohn.1_Intron	NM_020888	NP_065939	Q9P206	K1522_HUMAN	Homo sapiens KIAA1522 (KIAA1522), transcript variant 1, mRNA.	673	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CCCCCACCTTCCCCACCCCCA	0.597000														20			15		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767811	77767811	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:77767811G>A	uc003yau.2	+	9	9041	c.8654G>A	c.(8653-8655)aGc>aAc	p.S2885N	ZFHX4_uc003yaw.1_Missense_Mutation_p.S2840N	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2840						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T2885A(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CACGACCAAAGCTTTTACATC	0.527000										HNSCC(33;0.089)				22			10		0	0	1	0	0
UGT2A3	79799	broad.mit.edu	37	4	69798460	69798460	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:69798460G>A	uc003hef.2	-	2	913	c.882C>T	c.(880-882)gtC>gtT	p.V294V	UGT2A3_uc010ihp.1_Non-coding_Transcript	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A3 (UGT2A3), mRNA.	294						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CTGAACTCTGGACAAAATTTT	0.333000														71			50		0	0	1	0	0
AKAP11	11215	broad.mit.edu	37	13	42873925	42873925	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr13:42873925C>A	uc001uys.2	+	7	1218	c.1043C>A	c.(1042-1044)tCa>tAa	p.S348*		NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 11 (AKAP11), mRNA.	348					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		ATAGAGGATTCAGACTCAGAA	0.348000														18			9		7.48243e-07	7.52983e-07	1	1	0
POMC	5443	broad.mit.edu	37	2	25383959	25383959	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:25383959C>T	uc002rfy.1	-	3	1058	c.795G>A	c.(793-795)aaG>aaA	p.K265K	POMC_uc002rfz.1_Silent_p.K265K|POMC_uc002rga.1_Silent_p.K265K	NM_001035256	NP_001030333	P01189	COLI_HUMAN	Homo sapiens proopiomelanocortin (POMC), transcript variant 1, mRNA.	265					cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure	extracellular space|stored secretory granule	hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108)	CTCACTCGCCCTTCTTGTAGG	0.647000														19			8		0	0	1	0	0
LOC100133308	100133308	broad.mit.edu	37	10	45602072	45602072	+	RNA	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:45602072G>A	uc001jby.3	-	0		c.1365C>T			LOC100133308_uc001jbz.3_Non-coding_Transcript|LOC100133308_uc009xmq.2_Non-coding_Transcript					Homo sapiens Ras suppressor protein 1 pseudogene (LOC100133308), non-coding RNA.																		ACCTAGTTCTGGGCGTAGAAC	0.433000														23			15		0	0	1	0	0
OR5H14	403273	broad.mit.edu	37	3	97868415	97868415	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:97868415C>T	uc003dsg.1	+	0	186	c.186C>T	c.(184-186)ctC>ctT	p.L62L		NM_001005514	NP_001005514	A6NHG9	O5H14_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 14 (OR5H14), mRNA.	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TGTACTTACTCCTTGGGAATT	0.403000														182			132		0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	56029286	56029286	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:56029286C>T	uc003pcs.3	-	8	1538	c.1306G>A	c.(1306-1308)Gat>Aat	p.D436N	COL21A1_uc003pct.1_Non-coding_Transcript|COL21A1_uc011dxi.1_Missense_Mutation_p.D436N|COL21A1_uc003pcu.1_Missense_Mutation_p.D433N	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	436					cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			GAACCTACATCACTGGGACCA	0.403000														3			9		0	0	1	0	0
MNDA	4332	broad.mit.edu	37	1	158815598	158815598	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:158815598G>A	uc001fsz.1	+	4	992	c.792G>A	c.(790-792)aaG>aaA	p.K264K		NM_002432	NP_002423	P41218	MNDA_HUMAN	Homo sapiens myeloid cell nuclear differentiation antigen (MNDA), mRNA.	264	HIN-200.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					TAAGGAAGAAGGTCATTACCA	0.358000														21			18		0	0	1	0	0
ZNF614	80110	broad.mit.edu	37	19	52519426	52519426	+	Missense_Mutation	SNP	T	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:52519426T>A	uc002pyj.3	-	4	1827	c.1425A>T	c.(1423-1425)agA>agT	p.R475S	ZNF614_uc002pyi.4_Intron|ZNF614_uc010epj.3_Missense_Mutation_p.R178S	NM_025040	NP_079316	Q8N883	ZN614_HUMAN	Homo sapiens zinc finger protein 614 (ZNF614), mRNA.	475					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		CTGTATGACATCTCTCATGTT	0.403000														94			60		0	0	1	0	0
DDI1	414301	broad.mit.edu	37	11	103908522	103908522	+	Silent	SNP	A	G	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:103908522A>G	uc001phr.2	+	0	1215	c.972A>G	c.(970-972)caA>caG	p.Q324Q	PDGFD_uc001php.3_Intron|PDGFD_uc001phq.3_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	Homo sapiens DNA-damage inducible 1 homolog 1 (S. cerevisiae) (DDI1), mRNA.	324					proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		TTGAGGATCAACCCATGGATA	0.453000														80			37		0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2976739	2976739	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:2976739C>T	uc003smv.3	-	8	1607	c.1273G>A	c.(1273-1275)Gag>Aag	p.E425K		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	425					T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	p.E425K(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		ATGCAGGCCTCCCGCCGCACC	0.607000			Mis		DLBCL									24			20		0	0	1	0	0
NAV2	89797	broad.mit.edu	37	11	20065771	20065771	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:20065771G>A	uc010rdm.2	+	13	3582	c.3221G>A	c.(3220-3222)aGg>aAg	p.R1074K	NAV2_uc001mpp.3_Missense_Mutation_p.R987K|NAV2_uc001mpr.4_Missense_Mutation_p.R1051K|NAV2_uc021qew.1_Missense_Mutation_p.R1051K|NAV2_uc001mpt.2_Missense_Mutation_p.R137K|NAV2_uc009yhx.3_Missense_Mutation_p.R137K|NAV2_uc009yhy.1_Missense_Mutation_p.R50K	NM_001244963	NP_001231892	Q8IVL1	NAV2_HUMAN	Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA.	1074						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						ACCATGCCAAGGACGAAGCCT	0.582000														25			12		0	0	1	0	0
OR1L1	26737	broad.mit.edu	37	9	125424891	125424891	+	Silent	SNP	T	C	C			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:125424891T>C	uc022bmz.1	+	0	897	c.897T>C	c.(895-897)ggT>ggC	p.G299G		NM_001005236	NP_001005236	Q8NH94	OR1L1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 1 (OR1L1), mRNA.	349					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						TGAAGCAGGGTTTGGCAAAGT	0.388000														51			22		0	0	1	0	0
FAM83F	113828	broad.mit.edu	37	22	40415248	40415248	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr22:40415248G>A	uc003ayk.1	+	1	660	c.566G>A	c.(565-567)cGg>cAg	p.R189Q		NM_138435	NP_612444	Q8NEG4	FA83F_HUMAN	Homo sapiens family with sequence similarity 83, member F (FAM83F), mRNA.	189								p.R189R(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						TGTAAGCGCCGGGTCCCAGTG	0.532000														90			33		0	0	1	0	0
HPN	3249	broad.mit.edu	37	19	35551645	35551645	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:35551645C>T	uc002nxq.2	+	9	980	c.735C>T	c.(733-735)ccC>ccT	p.P245P	HPN_uc002nxr.2_Silent_p.P245P|HPN_uc010xsh.1_Silent_p.P214P|HPN_uc002nxt.1_Silent_p.P129P|LOC100128675_uc010xsi.2_Intron	NM_002151	NP_892028	P05981	HEPS_HUMAN	Homo sapiens hepsin (HPN), transcript variant 2, mRNA.	245	Peptidase S1.				cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	GCTATCTTCCCTTTCGGGACC	0.637000														64			46		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7581755	7581755	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:7581755G>A	uc003mxp.1	+	22	5611	c.5332G>A	c.(5332-5334)Gaa>Aaa	p.E1778K	DSP_uc003mxq.1_Intron|DSP_uc021yle.1_Intron	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1778	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GAGAGAGAGGGAAAATTTGAG	0.408000														136			34		0	0	1	0	0
OR6F1	343169	broad.mit.edu	37	1	247875172	247875172	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:247875172C>T	uc001idj.1	-	0	886	c.886G>A	c.(886-888)Gaa>Aaa	p.E296K		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily F, member 1 (OR6F1), mRNA.	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E296K(2)		breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TCTCTTACTTCCTTATTACGA	0.428000														85			48		0	0	1	0	0
FAM5C	339479	broad.mit.edu	37	1	190067151	190067151	+	Silent	SNP	A	G	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:190067151A>G	uc001gse.1	-	7	2530	c.2298T>C	c.(2296-2298)agT>agC	p.S766S	FAM5C_uc010pot.1_Silent_p.S664S	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	766						extracellular region		p.C765F(1)|p.S766I(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					TTTATGGTTAACTACATAATT	0.373000														32			46		0	0	1	0	0
OR4N5	390437	broad.mit.edu	37	14	20612077	20612077	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:20612077C>T	uc010tla.2	+	0	183	c.183C>T	c.(181-183)ttC>ttT	p.F61F		NM_001004724	NP_001004724	Q8IXE1	OR4N5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 5 (OR4N5), mRNA.	61					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		CCCTCTATTTCTTTCTGGGCA	0.453000														148			87		0	0	1	0	0
FCRL4	83417	broad.mit.edu	37	1	157557276	157557276	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:157557276C>T	uc001fqw.3	-	4	773	c.637G>A	c.(637-639)Gaa>Aaa	p.E213K	FCRL4_uc010phy.2_Non-coding_Transcript	NM_031282	NP_112572	Q96PJ5	FCRL4_HUMAN	Homo sapiens Fc receptor-like 4 (FCRL4), mRNA.	213	Ig-like C2-type 3.					integral to membrane|plasma membrane	receptor activity	p.E213K(2)|p.E213Q(2)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				AGCTGTGTTTCACAGCTCAGG	0.498000														85			58		0	0	1	0	0
ETS2	2114	broad.mit.edu	37	21	40194662	40194662	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr21:40194662G>A	uc002yxf.3	+	10	1719	c.1679G>A	c.(1678-1680)gGc>gAc	p.G560D	ETS2_uc002yxg.3_Missense_Mutation_p.G420D	NM_005239	NP_005230	P15036	ETS2_HUMAN	Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog 2 (avian) (ETS2), transcript variant 1, mRNA.	420					positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				CTGAGCCGGGGCTTACGCTAC	0.522000														40			20		0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54805457	54805457	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:54805457C>T	uc003pck.3	+	4	1804	c.1688C>T	c.(1687-1689)tCc>tTc	p.S563F		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	563										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					ACAACTGGCTCCTCAAATTCA	0.438000														41			11		0	0	1	0	0
ADAMTS19	171019	broad.mit.edu	37	5	129037210	129037210	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:129037210G>A	uc003kvb.1	+	19	3066	c.3066G>A	c.(3064-3066)ggG>ggA	p.G1022G	ADAMTS19_uc010jdh.1_Non-coding_Transcript	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA.	1022	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		ACTGCATTGGGCCCAAGCCCG	0.582000														33			14		0	0	1	0	0
C14orf184	0	broad.mit.edu	37	14	92040870	92040870	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:92040870G>A	uc010aua.2	-	0	87	c.87C>T	c.(85-87)ccC>ccT	p.P29P						RecName: Full=Putative uncharacterized protein C14orf184;																		CTCCTTCTCCGGGAACGGCCC	0.597000														4			6		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216256831	216256831	+	Silent	SNP	G	A	A	rs147371835	byFrequency	TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:216256831G>A	uc001hku.1	-	25	5652	c.5265C>T	c.(5263-5265)ttC>ttT	p.F1755F		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	1755	Laminin G-like 2.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGTTATAAACGAAAAGAAGCA	0.299000										HNSCC(13;0.011)				63			36		0	0	1	0	0
METTL2B	55798	broad.mit.edu	37	7	128119424	128119424	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:128119424G>A	uc003vnf.3	+	2	452	c.415G>A	c.(415-417)Gaa>Aaa	p.E139K	METTL2B_uc003vng.3_Missense_Mutation_p.E74K|METTL2B_uc011kop.2_Missense_Mutation_p.E3K	NM_018396	NP_060866	Q6P1Q9	MTL2B_HUMAN	Homo sapiens methyltransferase like 2B (METTL2B), mRNA.	139							methyltransferase activity			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						AATAATGGAAGAACAGCACAA	0.388000														116			10		0	0	1	0	0
COL4A3	1285	broad.mit.edu	37	2	228128517	228128517	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:228128517G>A	uc002vom.2	+	20	1334	c.1172G>A	c.(1171-1173)aGa>aAa	p.R391K	BC035052_uc002voq.1_Intron|AK056332_uc002vor.1_Intron	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) (COL4A3), mRNA.	391	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		CCTGGCCTCAGAGGAGCCCCT	0.468000														12			5		0	0	1	0	0
LOC728819	728819	broad.mit.edu	37	2	43903084	43903084	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:43903084G>T	uc010fav.1	-	0	378	c.378C>A	c.(376-378)taC>taA	p.Y126*	PLEKHH2_uc002rte.3_Intron|PLEKHH2_uc002rtf.3_Intron|PLEKHH2_uc010yny.2_Intron	NM_001101330	NP_001094800			Homo sapiens hCG1645220 (LOC728819), mRNA.														all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TTTCAAAGACGTATTTGTAAG	0.373000														103			53		3.89483e-19	3.95225e-19	1	1	0
ADC	113451	broad.mit.edu	37	1	33547955	33547955	+	Splice_Site	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:33547955G>A	uc009vug.3	+	1	177	c.105_splice	c.e1+1	p.T35_splice	ADC_uc001bwr.3_Splice_Site_p.T35_splice|ADC_uc001bws.3_Splice_Site_p.T35_splice|ADC_uc009vue.3_Splice_Site_p.T35_splice|ADC_uc001bwt.1_5'UTR|ADC_uc001bwu.3_Intron|ADC_uc001bwv.3_Intron|ADC_uc001bwx.1_5'UTR|ADC_uc009vuf.1_Splice_Site_p.T35_splice|ADC_uc001bwy.1_Splice_Site|ADC_uc001bwz.1_Splice_Site_p.T35_splice	NM_052998	NP_443724	Q96A70	ADC_HUMAN	Homo sapiens arginine decarboxylase (ADC), mRNA.	35				MAGYLSESDFVMVEEGFSTRDLLKELTLGASQATT -> QQ GSSVASTEPGSGTWKDHGWHAQGASWMGSHIHPLLVIQ (in Ref. 3; BAB85531).	polyamine biosynthetic process|spermatogenesis	cytosol	arginine decarboxylase activity			NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114)	AGGCCACCACGGTGAGGGGCT	0.602000														13			8		0	0	1	0	0
MTHFD1	4522	broad.mit.edu	37	14	64921587	64921587	+	Silent	SNP	A	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:64921587A>T	uc001xhb.3	+	25	3099	c.2712A>T	c.(2710-2712)gtA>gtT	p.V904V	MTHFD1_uc010aqf.3_Silent_p.V960V|ZBTB25_uc001xhc.3_Intron	NM_005956	NP_005947	P11586	C1TC_HUMAN	Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase (MTHFD1), mRNA.	904	Formyltetrahydrofolate synthetase.				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	ACCCCTTAGTAGGAACGGTAA	0.537000														63			37		0	0	1	0	0
ZNF835	90485	broad.mit.edu	37	19	57176338	57176338	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:57176338C>T	uc010ygn.2	-	1	456	c.229G>A	c.(229-231)Gac>Aac	p.D77N		NM_001005850	NP_001005850			Homo sapiens zinc finger protein 835 (ZNF835), mRNA.											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						GAACTGCTGTCGTCGGGGACA	0.647000														16			12		0	0	1	0	0
C22orf28	51493	broad.mit.edu	37	22	32794048	32794048	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr22:32794048G>A	uc003amm.2	-	6	825	c.694C>T	c.(694-696)Cag>Tag	p.Q232*	C22orf28_uc011ama.1_Non-coding_Transcript	NM_014306	NP_055121	Q9Y3I0	RTCB_HUMAN	Homo sapiens chromosome 22 open reading frame 28 (C22orf28), mRNA.	232					cell-matrix adhesion|substrate adhesion-dependent cell spreading|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|tRNA-splicing ligase complex	ATP binding|RNA ligase (ATP) activity|metal ion binding|vinculin binding			breast(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	21						TCCACAACCTGGATTTCTGCA	0.403000														108			35		0	0	1	0	0
USHBP1	83878	broad.mit.edu	37	19	17373620	17373620	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:17373620G>A	uc002nfs.1	-	3	496	c.383C>T	c.(382-384)tCc>tTc	p.S128F	USHBP1_uc002nft.1_Non-coding_Transcript|USHBP1_uc010xpk.1_Missense_Mutation_p.S64F|USHBP1_uc010eam.1_Missense_Mutation_p.S56F	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN	Homo sapiens Usher syndrome 1C binding protein 1 (USHBP1), mRNA.	128							PDZ domain binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						TGCCTCCAGGGAGCTCAGAGT	0.657000														35			10		0	0	1	0	0
GJA10	84694	broad.mit.edu	37	6	90604820	90604820	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:90604820C>T	uc011eaa.2	+	0	633	c.633C>T	c.(631-633)ttC>ttT	p.F211F		NM_032602	NP_115991	Q969M2	CXA10_HUMAN	Homo sapiens gap junction protein, alpha 10, 62kDa (GJA10), mRNA.	211					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		AGACAATTTTCATGCTTTTTA	0.403000														53			61		0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10247152	10247152	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:10247152G>A	uc002gmk.1	-	15	1949	c.1859C>T	c.(1858-1860)tCc>tTc	p.S620F	MYH13_uc010vvf.1_Missense_Mutation_p.S295F	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	620	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						AAAAAGGAAGGAGAGAAGCTT	0.498000														26			15		0	0	1	0	0
SEMA5A	9037	broad.mit.edu	37	5	9119249	9119249	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:9119249C>T	uc003jek.2	-	14	2498	c.1786G>A	c.(1786-1788)Gga>Aga	p.G596R		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A (SEMA5A), mRNA.	596	TSP type-1 2.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GTCCAGCCTCCGTTCCTGAGG	0.627000														10			5		0	0	1	0	0
OR52I1	390037	broad.mit.edu	37	11	4616188	4616188	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:4616188G>A	uc010qyi.2	+	0	920	c.920G>A	c.(919-921)gGa>gAa	p.G307E		NM_001005169	NP_001005169	Q8NGK6	O52I1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily I, member 1 (OR52I1), mRNA.	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTGCTGGAGGGAATATGGAGT	0.468000														75			58		0	0	1	0	0
ZNF212	7988	broad.mit.edu	37	7	148947509	148947509	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:148947509C>T	uc003wfp.3	+	1	412	c.284C>T	c.(283-285)gCc>gTc	p.A95V		NM_012256	NP_036388	Q9UDV6	ZN212_HUMAN	Homo sapiens zinc finger protein 212 (ZNF212), mRNA.	95					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			GGCAAGTGGGCCGTGCTGGGG	0.642000														139			39		0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150925668	150925668	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:150925668G>A	uc003lue.4	-	8	5033	c.5020C>T	c.(5020-5022)Cct>Tct	p.P1674S		NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	1674	Cadherin 15.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAACCAACAGGGATTGATTCA	0.453000														42			22		0	0	1	0	0
CAMKK1	84254	broad.mit.edu	37	17	3785639	3785639	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:3785639G>A	uc002fwv.3	-	7	859	c.711C>T	c.(709-711)atC>atT	p.I237I	CAMKK1_uc002fwt.3_Intron|CAMKK1_uc002fwu.3_Intron	NM_172207	NP_757344	Q8N5S9	KKCC1_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase kinase 1, alpha (CAMKK1), transcript variant 3, mRNA.	228	Protein kinase.				synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		AATCTAACTGGATATTCTGGG	0.557000														64			35		0	0	1	0	0
ZNF570	148268	broad.mit.edu	37	19	37975326	37975326	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:37975326C>T	uc010efl.1	+	5	1089	c.970C>T	c.(970-972)Cat>Tat	p.H324Y	ZNF570_uc002ogk.1_Missense_Mutation_p.H268Y|ZNF570_uc010xtr.1_Missense_Mutation_p.H65Y	NM_144694	NP_653295	Q96NI8	ZN570_HUMAN	Homo sapiens zinc finger protein 570 (ZNF570), mRNA.	268					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCAGAGGATTCATACTGGAGA	0.393000														52			22		0	0	1	0	0
DPPA4	55211	broad.mit.edu	37	3	109049539	109049539	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:109049539G>A	uc003dxq.4	-	4	566	c.511C>T	c.(511-513)Cct>Tct	p.P171S	DPPA4_uc011bho.2_Intron|DPPA4_uc011bhp.1_Missense_Mutation_p.P171S	NM_018189	NP_060659	Q7L190	DPPA4_HUMAN	Homo sapiens developmental pluripotency associated 4 (DPPA4), mRNA.	171						nucleus	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						CCCACAGGAGGAAGAGCCACT	0.507000														45			18		0	0	1	0	0
MRGPRX4	117196	broad.mit.edu	37	11	18194839	18194839	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:18194839G>A	uc001mnv.1	+	0	456	c.36G>A	c.(34-36)ctG>ctA	p.L12L		NM_054032	NP_473373	Q96LA9	MRGX4_HUMAN	Homo sapiens MAS-related GPR, member X4 (MRGPRX4), mRNA.	12						integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						GTACAAAACTGACACCAATCA	0.522000														96			46		0	0	1	0	0
NOS3	4846	broad.mit.edu	37	7	150704308	150704308	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:150704308G>A	uc003wif.3	+	16	2352	c.2056G>A	c.(2056-2058)Gac>Aac	p.D686N	NOS3_uc011kuy.2_Missense_Mutation_p.D480N	NM_000603	NP_000594	P29474	NOS3_HUMAN	Homo sapiens nitric oxide synthase 3 (endothelial cell) (NOS3), transcript variant 1, mRNA.	686	Flavodoxin-like.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	Golgi membrane|caveola|cytoskeleton|cytosol	FMN binding|NADP binding|actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.D686Y(2)		NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	GGGCCAGGGCGACGAGCTGTG	0.716000														69			15		0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7550881	7550881	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:7550881C>T	uc010sge.2	-	6	1764	c.1738G>A	c.(1738-1740)Gat>Aat	p.D580N	CD163L1_uc001qsy.3_Missense_Mutation_p.D570N	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	570						extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						ACAATCACATCCTCTCTGTGT	0.398000														62			45		0	0	1	0	0
CCDC40	55036	broad.mit.edu	37	17	78058748	78058748	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:78058748C>T	uc010dht.3	+	12	2227	c.2196C>T	c.(2194-2196)ttC>ttT	p.F732F	CCDC40_uc021uem.1_Silent_p.F732F|CCDC40_uc002jxm.4_Silent_p.F515F|CCDC40_uc002jxn.4_Silent_p.F128F	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	Homo sapiens coiled-coil domain containing 40 (CCDC40), transcript variant 1, mRNA.	732					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TCATCAACTTCCTCAACAAGC	0.617000														20			21		0	0	1	0	0
OR7E24	26648	broad.mit.edu	37	19	9362277	9362277	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:9362277C>T	uc002mlb.1	+	0	558	c.558C>T	c.(556-558)tgC>tgT	p.C186C		NM_001079935	NP_001073404	Q6IFN5	O7E24_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily E, member 24 (OR7E24), mRNA.	186					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						AGCTCACCTGCTTCAAGGATG	0.403000														17			7		0	0	1	0	0
CA13	377677	broad.mit.edu	37	8	86163066	86163066	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:86163066C>T	uc003ydg.2	+	1	477	c.135C>T	c.(133-135)ctC>ctT	p.L45L	CA13_uc003ydf.1_Non-coding_Transcript	NM_198584	NP_940986	Q8N1Q1	CAH13_HUMAN	Homo sapiens carbonic anhydrase XIII (CA13), mRNA.	45					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding	p.L45L(2)		large_intestine(1)|lung(6)	7						ACTCTTCCCTCCGACCACTTA	0.408000														92			104		0	0	1	0	0
HSP90AB2P	391634	broad.mit.edu	37	4	13338648	13338648	+	RNA	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:13338648C>T	uc003gms.3	+	0		c.3612C>T								Homo sapiens heat shock protein 90kDa alpha (cytosolic), class B member 2, pseudogene (HSP90AB2P), non-coding RNA.											kidney(3)|lung(1)	4						CAAAGTGATCCTCCACCTTAA	0.483000														32			21		0	0	1	0	0
ADCY10	55811	broad.mit.edu	37	1	167823649	167823649	+	Silent	SNP	G	A	A	rs143102400	by1000genomes	TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:167823649G>A	uc001ger.3	-	17	2548	c.2250C>T	c.(2248-2250)ctC>ctT	p.L750L	ADCY10_uc010plj.2_Silent_p.L597L|ADCY10_uc009wvk.3_Silent_p.L658L|ADCY10_uc009wvl.3_Silent_p.L749L	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	750					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	ATP binding|adenylate cyclase activity|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						GTTGGAAAACGAGTACCTCAT	0.443000														59			36		0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136566965	136566965	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:136566965G>A	uc002tuu.1	-	7	2963	c.2952C>T	c.(2950-2952)ttC>ttT	p.F984F		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	984	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		TCCCAGTTGGGAAAATCCGAG	0.493000														33			14		0	0	1	0	0
OR52I2	143502	broad.mit.edu	37	11	4609094	4609094	+	Silent	SNP	G	A	A	rs139603676	byFrequency	TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:4609094G>A	uc010qyh.2	+	0	1074	c.1052G>A	c.(1051-1053)tGa>tAa	p.*351*		NM_001005170	NP_001005170	Q8NH67	O52I2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily I, member 2 (OR52I2), mRNA.	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTGGGTTCATGAACACAATAT	0.423000														85			44		0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	51052998	51052998	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr18:51052998C>T	uc002lfe.2	+	27	4739	c.4123C>T	c.(4123-4125)Cct>Tct	p.P1375S	DCC_uc010dpf.2_Missense_Mutation_p.P1008S	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	1375			P -> H (in a colorectal carcinoma).		apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GCCCACTCTTCCTAAGACCCA	0.458000														100			29		0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128363492	128363492	+	Missense_Mutation	SNP	A	G	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:128363492A>G	uc002top.3	+	19	2466	c.2413A>G	c.(2413-2415)Aat>Gat	p.N805D		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	Homo sapiens myosin VIIB (MYO7B), mRNA.	805	IQ 3.					apical plasma membrane|myosin complex	ATP binding|actin binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CAACAGGAGGAATTTCAAGCT	0.557000														17			12		0	0	1	0	0
PARP4	143	broad.mit.edu	37	13	25008975	25008975	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr13:25008975G>A	uc001upl.3	-	30	4410	c.4304C>T	c.(4303-4305)cCc>cTc	p.P1435L		NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 4 (PARP4), mRNA.	1435					DNA repair|cell death|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|NAD+ ADP-ribosyltransferase activity|enzyme binding	p.P1435T(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		ATGAAGCTGGGGAGAATCCAG	0.512000														16			6		0	0	1	0	0
ZNF385B	151126	broad.mit.edu	37	2	180348096	180348096	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:180348096C>T	uc002unn.4	-	5	1177	c.573G>A	c.(571-573)acG>acA	p.T191T	ZNF385B_uc002unj.3_Silent_p.T89T|ZNF385B_uc002unl.3_Silent_p.T88T|ZNF385B_uc002unk.3_Non-coding_Transcript|ZNF385B_uc002unm.3_Silent_p.T115T	NM_152520	NP_001106869	Q569K4	Z385B_HUMAN	Homo sapiens zinc finger protein 385B (ZNF385B), transcript variant 1, mRNA.	191						nucleus	nucleic acid binding|zinc ion binding	p.T191T(2)|p.T191M(1)		breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			GTTTATTTTTCGTTGCGTCTA	0.468000														48			16		0	0	1	0	0
MAPK9	5601	broad.mit.edu	37	5	179696318	179696318	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:179696318G>A	uc003mls.4	-	2	485	c.214C>T	c.(214-216)Cgt>Tgt	p.R72C	MAPK9_uc003mlv.4_Missense_Mutation_p.R72C|MAPK9_uc003mlt.4_Missense_Mutation_p.R72C|MAPK9_uc010jlc.3_Missense_Mutation_p.R72C|MAPK9_uc021yji.1_Missense_Mutation_p.R46C|MAPK9_uc021yjj.1_Missense_Mutation_p.R72C|MAPK9_uc021yjk.1_Missense_Mutation_p.R72C|MAPK9_uc021yjl.1_Missense_Mutation_p.R72C|MAPK9_uc011dgx.2_Missense_Mutation_p.R72C	NM_002752	NP_002743	P45984	MK09_HUMAN	Homo sapiens mitogen-activated protein kinase 9 (MAPK9), transcript variant JNK2-a2, mRNA.	72	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACAAGTTCACGATAAGCTCTC	0.348000														42			28		0	0	1	0	0
SEPP1	6414	broad.mit.edu	37	5	42807079	42807079	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:42807079G>A	uc011cps.2	-	3	523	c.425C>T	c.(424-426)cCt>cTt	p.P142L	SEPP1_uc011cpt.2_Missense_Mutation_p.P112L|SEPP1_uc011cpu.2_Missense_Mutation_p.P112L|SEPP1_uc003jna.3_Non-coding_Transcript	NM_001093726		P49908	SEPP1_HUMAN	Homo sapiens selenoprotein P, plasma, 1 (SEPP1), transcript variant 3, mRNA.	112					response to oxidative stress	extracellular region	selenium binding			kidney(10)|large_intestine(1)|lung(4)	15						TTGATAAACAGGAATATGCTC	0.308000														25			10		0	0	1	0	0
HOXD9	3235	broad.mit.edu	37	2	176987716	176987716	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:176987716G>A	uc010zex.2	+	0	304	c.220G>A	c.(220-222)Gtg>Atg	p.V74M		NM_014213	NP_055028	P28356	HXD9_HUMAN	Homo sapiens homeobox D9 (HOXD9), mRNA.	74						nucleus	sequence-specific DNA binding			endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		CAGATCGGCCGTGTTCTCTGC	0.761000														19			3		0	0	1	0	0
TRIP6	7205	broad.mit.edu	37	7	100466372	100466372	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:100466372G>A	uc003uww.3	+	3	789	c.619G>A	c.(619-621)Gaa>Aaa	p.E207K	TRIP6_uc010lhk.2_5'UTR|TRIP6_uc022aiv.1_Missense_Mutation_p.E186K|TRIP6_uc022ait.1_5'UTR|TRIP6_uc022aiu.1_5'UTR	NM_003302	NP_003293	Q15654	TRIP6_HUMAN	Homo sapiens thyroid hormone receptor interactor 6 (TRIP6), mRNA.	207					focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent	cytoplasm|cytoskeleton|focal adhesion|nucleus	identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14	Lung NSC(181;0.041)|all_lung(186;0.0581)					AGGCCGAGGTGAAGTCTGGGG	0.697000														5			5		0	0	1	0	0
DUSP4	1846	broad.mit.edu	37	8	29194925	29194925	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:29194925G>A	uc003xhm.3	-	3	1275	c.803C>T	c.(802-804)gCc>gTc	p.A268V	DUSP4_uc003xhl.3_Missense_Mutation_p.A177V	NM_001394	NP_001385	Q13115	DUS4_HUMAN	Homo sapiens dual specificity phosphatase 4 (DUSP4), transcript variant 1, mRNA.	268	Tyrosine-protein phosphatase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|endoderm formation|inactivation of MAPK activity|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity			endometrium(1)|large_intestine(1)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113)		GTCCTTCACGGCATCTGGGGA	0.662000														18			13		0	0	1	0	0
TTC18	118491	broad.mit.edu	37	10	75072263	75072263	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:75072263C>T	uc009xrc.3	-	10	1382	c.1261G>A	c.(1261-1263)Gat>Aat	p.D421N	TTC18_uc001jty.3_Missense_Mutation_p.D421N|TTC18_uc009xrd.1_Missense_Mutation_p.D229N	NM_145170	NP_660153	Q5T0N1	TTC18_HUMAN	Homo sapiens tetratricopeptide repeat domain 18 (TTC18), mRNA.	421							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					CCATCTATATCCTTTTCTTTC	0.383000														83			43		0	0	1	0	0
LAIR2	3904	broad.mit.edu	37	19	55014950	55014950	+	Splice_Site	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:55014950G>A	uc002qgc.3	+	2	192	c.70_splice	c.e2+1	p.G24_splice	LAIR2_uc002qga.1_Splice_Site|LAIR2_uc002qgb.1_Intron|LAIR2_uc002qgd.3_Splice_Site_p.G24_splice|LAIR2_uc010erl.3_Splice_Site_p.G24_splice	NM_002288	NP_002279	Q6ISS4	LAIR2_HUMAN	Homo sapiens leukocyte-associated immunoglobulin-like receptor 2 (LAIR2), transcript variant 1, mRNA.	24						extracellular region	receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)	18	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0967)		ACACGCAGGAGGGTAAGTCAT	0.572000														60			25		0	0	1	0	0
ECHDC3	79746	broad.mit.edu	37	10	11789354	11789354	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:11789354C>T	uc001ikw.4	+	1	397	c.177C>T	c.(175-177)atC>atT	p.I59I	ECHDC3_uc009xix.3_5'UTR	NM_024693	NP_078969	Q96DC8	ECHD3_HUMAN	Homo sapiens enoyl CoA hydratase domain containing 3 (ECHDC3), nuclear gene encoding mitochondrial protein, mRNA.	59						mitochondrion	catalytic activity	p.I59I(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)	4						ACAGGAACATCGTCTTGAGCA	0.443000														35			18		0	0	1	0	0
A2ML1	144568	broad.mit.edu	37	12	9013826	9013827	+	Silent	DNP	CC	TT	TT			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:9013826_9013827CC>TT	uc001quz.4	+	27	3533_3534	c.3435_3436CC>TT	c.(3433-3438)tccctg>tcTTtg	p.1145_1146SL>SL	A2ML1_uc001qva.1_Silent_p.725_726SL>SL|A2ML1_uc010sgm.2_Silent_p.645_646SL>SL	NM_144670	NP_653271	B3KVV6	B3KVV6_HUMAN	Homo sapiens alpha-2-macroglobulin-like 1 (A2ML1), mRNA.	989						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						ACATTTTCTCCCTGGCTGGGGA	0.470000														93			45		0	0	1	0	0
ADH1A	124	broad.mit.edu	37	4	100208773	100208773	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:100208773G>A	uc003hur.2	-	1	182	c.68C>T	c.(67-69)tCc>tTc	p.S23F	LOC100507053_uc003hum.2_Intron|ADH1A_uc010ilf.1_5'Flank|ADH1A_uc010ilg.2_Missense_Mutation_p.S23F	NM_000667	NP_000658	P07327	ADH1A_HUMAN	Homo sapiens alcohol dehydrogenase 1A (class I), alpha polypeptide (ADH1A), mRNA.	23					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	CTCCTCAATGGAAAAGGGTTT	0.408000														38			23		0	0	1	0	0
SIGLEC11	114132	broad.mit.edu	37	19	50461704	50461704	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:50461704C>T	uc010ybh.2	-	7	1578	c.1487G>A	c.(1486-1488)gGg>gAg	p.G496E	SIGLEC11_uc010ybi.2_Intron	NM_052884	NP_443116	Q96RL6	SIG11_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 11 (SIGLEC11), transcript variant 1, mRNA.	496					cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		ACTGCTGTTCCCCTCCAGCAG	0.701000														11			6		0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51901754	51901754	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:51901754G>A	uc002iua.2	+	0	1516	c.1360G>A	c.(1360-1362)Gga>Aga	p.G454R	KIF2B_uc010wna.1_Non-coding_Transcript	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	454	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GAATGAAAGAGGAGCAGATAC	0.488000														24			18		0	0	1	0	0
ZNF132	7691	broad.mit.edu	37	19	58946342	58946343	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:58946342_58946343GG>AA	uc002qst.4	-	2	869_870	c.468_469CC>TT	c.(466-471)aacctt>aaTTtt	p.L157F		NM_003433	NP_003424	P52740	ZN132_HUMAN	Homo sapiens zinc finger protein 132 (ZNF132), mRNA.	157						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		TGCTGGTGAAGGTTTGCATTCA	0.495000														51			20		0	0	1	0	0
AXL	558	broad.mit.edu	37	19	41763489	41763489	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:41763489G>A	uc010ehj.3	+	18	2478	c.2288G>A	c.(2287-2289)cGc>cAc	p.R763H	AXL_uc010ehk.3_Missense_Mutation_p.R754H	NM_021913	NP_068713	P30530	UFO_HUMAN	Homo sapiens AXL receptor tyrosine kinase (AXL), transcript variant 1, mRNA.	763	Protein kinase.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						GACTATCTGCGCCAGGGAAAT	0.562000														93			52		0	0	1	0	0
DENND3	22898	broad.mit.edu	37	8	142195337	142195337	+	Missense_Mutation	SNP	C	G	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:142195337C>G	uc003yvy.3	+	17	3082	c.2804C>G	c.(2803-2805)aCc>aGc	p.T935S	DENND3_uc010mep.3_Missense_Mutation_p.T896S|DENND3_uc003ywa.1_5'UTR	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	Homo sapiens DENN/MADD domain containing 3 (DENND3), mRNA.	935										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			TCTTCATGGACCATCCACCAG	0.498000														29			73		0	0	1	0	0
PLVAP	83483	broad.mit.edu	37	19	17487808	17487808	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:17487808G>A	uc002ngk.1	-	0	330	c.290C>T	c.(289-291)gCc>gTc	p.A97V		NM_031310	NP_112600	Q9BX97	PLVAP_HUMAN	Homo sapiens plasmalemma vesicle associated protein (PLVAP), mRNA.	97						caveola|integral to membrane|perinuclear region of cytoplasm				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CTGCATGATGGCATCCTTGGC	0.632000														44			25		0	0	1	0	0
OR5B12	390191	broad.mit.edu	37	11	58206784	58206784	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:58206784G>A	uc010rkh.2	-	0	863	c.841C>T	c.(841-843)Ccc>Tcc	p.P281S		NM_001004733	NP_001004733	Q96R08	OR5BC_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 12 (OR5B12), mRNA.	281					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TTCAACATGGGAATGACTATG	0.423000														29			17		0	0	1	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1967762	1967762	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:1967762C>T	uc021qsx.1	-	19	2220	c.1989G>A	c.(1987-1989)ggG>ggA	p.G663G	CACNA2D4_uc009zds.2_Non-coding_Transcript|CACNA2D4_uc009zdt.1_Silent_p.G527G	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 4 (CACNA2D4), mRNA.	663						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		CAGACGTGTTCCCCAGAAGGA	0.587000														50			12		0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106813782	106813782	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:106813782C>T	uc003ymd.3	+	7	1495	c.1472C>T	c.(1471-1473)tCt>tTt	p.S491F	ZFPM2_uc011lhs.2_Missense_Mutation_p.S222F	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	491					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	p.P490H(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			ATTGGGCCTTCTTTCCCTGTG	0.443000														98			40		0	0	1	0	0
EXOG	9941	broad.mit.edu	37	3	38537972	38537972	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:38537972C>T	uc003cih.2	+	0	210	c.114C>T	c.(112-114)ttC>ttT	p.F38F	EXOG_uc010hhg.3_Non-coding_Transcript|EXOG_uc010hhf.2_5'UTR|EXOG_uc003cii.2_5'UTR|EXOG_uc011ayq.1_Silent_p.F38F|EXOG_uc003cij.2_5'UTR|EXOG_uc010hhd.2_5'UTR|EXOG_uc010hhe.2_5'UTR|EXOG_uc003cik.2_5'UTR	NM_005107	NP_005098	Q9Y2C4	EXOG_HUMAN	Homo sapiens endo/exonuclease (5'-3'), endonuclease G-like (EXOG), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	38						mitochondrial inner membrane	endonuclease activity|metal ion binding|nucleic acid binding			central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	17						CCCTGCAGTTCTTCCGGAGTC	0.672000											OREG0015479	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		28			16		0	0	1	0	0
TM4SF4	7104	broad.mit.edu	37	3	149216612	149216612	+	Missense_Mutation	SNP	A	G	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:149216612A>G	uc003exd.2	+	3	802	c.505A>G	c.(505-507)Atc>Gtc	p.I169V		NM_004617	NP_004608	P48230	T4S4_HUMAN	Homo sapiens transmembrane 4 L six family member 4 (TM4SF4), mRNA.	169						integral to membrane				large_intestine(3)|lung(4)|ovary(1)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			CGTAGGAGGAATCCAGATGGT	0.552000														47			21		0	0	1	0	0
CDK18	5129	broad.mit.edu	37	1	205495565	205495565	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:205495565C>T	uc001hcr.3	+	6	994	c.732C>T	c.(730-732)tcC>tcT	p.S244S	CDK18_uc010pri.2_3'UTR|CDK18_uc001hcp.3_Silent_p.S214S|CDK18_uc001hcq.3_Silent_p.S214S|CDK18_uc010prj.2_Silent_p.S125S|CDK18_uc001hcs.3_Silent_p.S125S|CDK18_uc009xbm.1_Silent_p.S125S	NM_212503	NP_997668	Q07002	CDK18_HUMAN	Homo sapiens cyclin-dependent kinase 18 (CDK18), transcript variant 1, mRNA.	212	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity			breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						CAGATCGGTCCCTCACCCTGG	0.592000														79			45		0	0	1	0	0
RHPN2	85415	broad.mit.edu	37	19	33493245	33493245	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:33493245G>A	uc002nuf.3	-	8	1079	c.1013C>T	c.(1012-1014)cCc>cTc	p.P338L	RHPN2_uc010xro.2_Missense_Mutation_p.P187L|RHPN2_uc002nue.3_Missense_Mutation_p.P68L	NM_033103	NP_149094	Q8IUC4	RHPN2_HUMAN	Homo sapiens rhophilin, Rho GTPase binding protein 2 (RHPN2), mRNA.	338	BRO1.				signal transduction	perinuclear region of cytoplasm	protein binding	p.P338P(1)		NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					CCAGGAGTAGGGGATGTTCTC	0.622000														59			23		0	0	1	0	0
KIF6	221458	broad.mit.edu	37	6	39554141	39554141	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:39554141G>A	uc003oot.2	-	7	981	c.886C>T	c.(886-888)Cct>Tct	p.P296S	KIF6_uc010jxa.1_Missense_Mutation_p.P87S|KIF6_uc011dua.1_Missense_Mutation_p.P296S|KIF6_uc010jxb.1_Missense_Mutation_p.P296S	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN	Homo sapiens kinesin family member 6 (KIF6), mRNA.	296					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TTTCTATAAGGAATGTGCGAA	0.408000														59			88		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40980848	40980848	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr20:40980848C>T	uc002xkg.3	-	9	1822	c.1638G>A	c.(1636-1638)cgG>cgA	p.R546R	PTPRT_uc010ggj.3_Silent_p.R546R	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	546	Fibronectin type-III 3.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GGGTTTCATTCCGGAGCTTGA	0.562000														47			22		0	0	1	0	0
SFMBT1	51460	broad.mit.edu	37	3	52988355	52988355	+	Missense_Mutation	SNP	A	G	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:52988355A>G	uc003dgf.3	-	3	724	c.101T>C	c.(100-102)gTt>gCt	p.V34A	SFMBT1_uc003dgg.3_Missense_Mutation_p.V34A|SFMBT1_uc003dgh.3_Missense_Mutation_p.V34A	NM_001005159	NP_057413	Q9UHJ3	SMBT1_HUMAN	Homo sapiens Scm-like with four mbt domains 1 (SFMBT1), transcript variant 1, mRNA.	34	Antigenic epitope.				regulation of transcription, DNA-dependent	nucleus				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		CCCATAGGGAACTGCTGTGGA	0.348000														76			32		0	0	1	0	0
AGAP5	729092	broad.mit.edu	37	10	75435589	75435589	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:75435589C>T	uc009xri.3	-	7	870	c.829G>A	c.(829-831)Ggg>Agg	p.G277R	AGAP5_uc001juu.4_Missense_Mutation_p.G238R	NM_001144000	NP_001137472	A6NIR3	AGAP5_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 5 (AGAP5), mRNA.	277					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(5)|skin(1)	12						CTGCCGCTCCCGATGGTGTCA	0.512000														92			41		0	0	1	0	0
FSD2	123722	broad.mit.edu	37	15	83438571	83438571	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:83438571C>T	uc002bjd.2	-	7	1500	c.1333G>A	c.(1333-1335)Gaa>Aaa	p.E445K	FSD2_uc010uol.1_Intron|FSD2_uc010uom.1_Intron	NM_001007122	NP_001007123	A1L4K1	FSD2_HUMAN	Homo sapiens fibronectin type III and SPRY domain containing 2 (FSD2), mRNA.	445	Fibronectin type-III 1.									breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						ACCCAAAATTCATACTGGGTA	0.458000														54			25		0	0	1	0	0
C9orf3	84909	broad.mit.edu	37	9	97522337	97522337	+	Nonsense_Mutation	SNP	C	G	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:97522337C>G	uc004ava.3	+	0	407	c.272C>G	c.(271-273)tCa>tGa	p.S91*	C9orf3_uc011lui.2_Non-coding_Transcript|C9orf3_uc004aux.2_Nonsense_Mutation_p.S91*|C9orf3_uc004auy.3_Nonsense_Mutation_p.S91*|C9orf3_uc004auz.1_Nonsense_Mutation_p.S91*	NM_001193329	NP_001180258	Q8N6M6	AMPO_HUMAN	Homo sapiens chromosome 9 open reading frame 3 (C9orf3), transcript variant 1, mRNA.	91					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		AGGACCTTCTCATCTGAAATG	0.413000														27			29		0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	31040238	31040238	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:31040238C>T	uc002nsu.1	+	3	3850	c.3712C>T	c.(3712-3714)Ctt>Ttt	p.L1238F	ZNF536_uc010edd.1_Missense_Mutation_p.L1238F	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	1238					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CAGCCAGGGTCTTCTCCAAGC	0.667000														11			11		0	0	1	0	0
PCSK6	5046	broad.mit.edu	37	15	101924541	101924541	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:101924541C>T	uc002bxa.2	-	10	1711	c.1397G>A	c.(1396-1398)gGc>gAc	p.G466D	PCSK6_uc010bpd.3_Intron|PCSK6_uc002bwy.3_Missense_Mutation_p.G466D|PCSK6_uc010bpe.3_Missense_Mutation_p.G463D|PCSK6_uc002bxb.2_Missense_Mutation_p.G466D|PCSK6_uc002bxc.1_Missense_Mutation_p.G466D|PCSK6_uc002bxd.1_Missense_Mutation_p.G466D|PCSK6_uc002bxe.3_Missense_Mutation_p.G466D|PCSK6_uc002bxg.1_Missense_Mutation_p.G466D	NM_138320	NP_612193	P29122	PCSK6_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 6 (PCSK6), transcript variant 7, mRNA.	467					glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	Golgi lumen|cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ATGACCCGCGCCGTTCACTTT	0.572000														9			9		0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70980795	70980795	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:70980795C>T	uc001swb.4	-	6	1679	c.1649G>A	c.(1648-1650)gGa>gAa	p.G550E	PTPRB_uc010sto.2_Missense_Mutation_p.G550E|PTPRB_uc010stp.2_Missense_Mutation_p.G460E|PTPRB_uc001swc.4_Missense_Mutation_p.G768E|PTPRB_uc001swa.4_Missense_Mutation_p.G768E|PTPRB_uc001swd.4_Missense_Mutation_p.G767E|PTPRB_uc009zrr.2_Missense_Mutation_p.G647E	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	550	Fibronectin type-III 6.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ACCTGTTCTTCCTTTTACTGA	0.338000														37			13		0	0	1	0	0
MYO1F	4542	broad.mit.edu	37	19	8591470	8591470	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:8591470C>T	uc002mkg.3	-	23	2775	c.2637G>A	c.(2635-2637)gtG>gtA	p.V879V		NM_012335	NP_036467	O00160	MYO1F_HUMAN	Homo sapiens myosin IF (MYO1F), mRNA.	879						unconventional myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CCTCCTTCTTCACCCGAAACT	0.687000														0			2		0	0	1	0	0
DGCR2	9993	broad.mit.edu	37	22	19036100	19036100	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr22:19036100G>A	uc002zoq.1	-	6	1107	c.859C>T	c.(859-861)Cct>Tct	p.P287S	DGCR2_uc021wkx.1_Missense_Mutation_p.P284S|DGCR2_uc021wky.1_Missense_Mutation_p.P246S|DGCR2_uc021wkz.1_Missense_Mutation_p.P63S|DGCR2_uc011agr.1_Missense_Mutation_p.P243S|DGCR2_uc002zor.1_Missense_Mutation_p.P63S|DGCR11_uc002zos.2_5'Flank	NM_005137	NP_005128	P98153	IDD_HUMAN	Homo sapiens DiGeorge syndrome critical region gene 2 (DGCR2), transcript variant 1, mRNA.	287	VWFC.				cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					TCCCCCTTAGGGGTGAAGTAG	0.527000														235			298		0	0	1	0	0
CCKAR	886	broad.mit.edu	37	4	26483645	26483645	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:26483645G>A	uc003gse.1	-	4	1055	c.902C>T	c.(901-903)tCc>tTc	p.S301F		NM_000730	NP_000721	P32238	CCKAR_HUMAN	Homo sapiens cholecystokinin A receptor (CCKAR), mRNA.	301					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	GTTGGCTGCGGAGCTGTTACT	0.617000														74			34		0	0	1	0	0
DENND2C	163259	broad.mit.edu	37	1	115078818	115078818	+	RNA	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:115078818G>A	uc001eez.3	-	28		c.4825C>T				NM_198459		Q68D51	DEN2C_HUMAN	Homo sapiens DENN/MADD domain containing 2C (DENND2C), transcript variant 2, mRNA.											NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATTAAGTCTGGAACGAATGTG	0.498000														25			16		0	0	1	0	0
AP2A2	161	broad.mit.edu	37	11	984707	984707	+	Missense_Mutation	SNP	G	C	C			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:984707G>C	uc001lst.2	+	6	981	c.768G>C	c.(766-768)tgG>tgC	p.W256C	AP2A2_uc009yco.2_Non-coding_Transcript|AP2A2_uc001lss.3_Missense_Mutation_p.W256C	NM_001242837	NP_001229766	O94973	AP2A2_HUMAN	Homo sapiens adaptor-related protein complex 2, alpha 2 subunit (AP2A2), transcript variant 1, mRNA.	256					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity	p.W256R(1)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		CGGCTCCCTGGCTGTCTGTCA	0.577000														135			50		0	0	1	0	0
MON1A	84315	broad.mit.edu	37	3	49950762	49950762	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:49950762C>T	uc003cxz.3	-	1	435	c.309G>A	c.(307-309)caG>caA	p.Q103Q	MON1A_uc003cya.3_Silent_p.Q103Q|MON1A_uc003cyb.2_Silent_p.Q103Q|MON1A_uc010hlb.2_Silent_p.Q103Q	NM_032355	NP_115731	Q86VX9	MON1A_HUMAN	Homo sapiens MON1 homolog A (yeast) (MON1A), transcript variant 1, mRNA.	6							protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TTCTCTTCCTCTGCATGTCAG	0.512000														29			26		0	0	1	0	0
ERMAP	114625	broad.mit.edu	37	1	43308638	43308638	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:43308638C>T	uc001cic.1	+	11	1433	c.1163C>T	c.(1162-1164)tCt>tTt	p.S388F	ERMAP_uc001cid.1_Non-coding_Transcript|ERMAP_uc001cie.1_Missense_Mutation_p.S388F|ERMAP_uc001cif.1_Missense_Mutation_p.S298F	NM_001017922	NP_061008	Q96PL5	ERMAP_HUMAN	Homo sapiens erythroblast membrane-associated protein (Scianna blood group) (ERMAP), transcript variant 1, mRNA.	388	B30.2/SPRY.		Missing (in Sc-3 allele).			integral to membrane|plasma membrane		p.S388F(2)		breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CACAATTTCTCTGGCCCCCTT	0.453000														76			35		0	0	1	0	0
CSF1	1435	broad.mit.edu	37	1	110466781	110466781	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:110466781G>A	uc001dyu.2	+	5	1951	c.1538G>A	c.(1537-1539)gGa>gAa	p.G513E	CSF1_uc001dyt.2_Missense_Mutation_p.G397E|CSF1_uc021ori.1_Missense_Mutation_p.G215E|CSF1_uc001dyw.4_Missense_Mutation_p.G513E|CSF1_uc021orj.1_Missense_Mutation_p.G174E	NM_172212	NP_757351	P09603	CSF1_HUMAN	Homo sapiens colony stimulating factor 1 (macrophage) (CSF1), transcript variant 4, mRNA.	513					cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity	extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity			breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		CTGGCCGTCGGAGGCCTCTTG	0.642000														20			14		0	0	1	0	0
RBM5	10181	broad.mit.edu	37	3	50148193	50148193	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:50148193C>T	uc003cyg.3	+	16	1620	c.1445C>T	c.(1444-1446)cCc>cTc	p.P482L	RBM5_uc011bdj.2_Missense_Mutation_p.P426L|RBM5_uc011bdk.2_Missense_Mutation_p.P310L|RBM5_uc003cyh.3_5'Flank	NM_005778	NP_005769	P52756	RBM5_HUMAN	Homo sapiens RNA binding motif protein 5 (RBM5), transcript variant 1, mRNA.	482	Required for interaction with U2AF2.|Sufficient for interaction with ACIN1, PRPF8, SFRS3, SNRPB, SNRPN, SNRNP70 and SNRNP200.				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TATTATGACCCCAACTCGCAA	0.398000														43			28		0	0	1	0	0
BEX5	340542	broad.mit.edu	37	X	101408958	101408958	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:101408958G>A	uc022cat.1	-	0	280	c.280C>T	c.(280-282)Ctt>Ttt	p.L94F	BEX5_uc010nnz.3_Missense_Mutation_p.L94F|BEX5_uc004eir.3_Missense_Mutation_p.L94F	NM_001159560	NP_001153032	Q5H9J7	BEX5_HUMAN	Homo sapiens brain expressed, X-linked 5 (BEX5), transcript variant 2, mRNA.	94						cytoplasm				large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4						TCCCCTATAAGAATGCGCAGA	0.423000														17			32		0	0	1	0	0
X06774	0	broad.mit.edu	37	7	38370206	38370206	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:38370206C>T	uc010kxj.1	-	1	228	c.92G>A	c.(91-93)aGg>aAg	p.R31K	X06774_uc010kxk.1_Non-coding_Transcript					Homo sapiens cDNA FLJ77147 complete cds, highly similar to Homo sapiens T cell receptor gamma variable 7, mRNA.																		CCCAGTTGGCCTGGTGACTGA	0.483000														42			22		0	0	1	0	0
LECT1	11061	broad.mit.edu	37	13	53298230	53298230	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr13:53298230G>A	uc001vhf.2	-	3	481	c.370C>T	c.(370-372)Cgt>Tgt	p.R124C	LECT1_uc001vhg.2_Missense_Mutation_p.R124C|LECT1_uc001vhh.2_Intron	NM_007015	NP_008946	O75829	LECT1_HUMAN	Homo sapiens leukocyte cell derived chemotaxin 1 (LECT1), transcript variant 1, mRNA.	124	BRICHOS.				cartilage development|proteoglycan metabolic process	endomembrane system|extracellular region|integral to membrane				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		CCAGCAAAACGAATTCCTGTG	0.438000														38			14		0	0	1	0	0
FHL5	9457	broad.mit.edu	37	6	97053802	97053802	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:97053802G>A	uc003pos.2	+	4	775	c.359G>A	c.(358-360)gGa>gAa	p.G120E	FHL5_uc003pot.2_Missense_Mutation_p.G120E	NM_020482	NP_065228	Q5TD97	FHL5_HUMAN	Homo sapiens four and a half LIM domains 5 (FHL5), transcript variant 1, mRNA.	120	LIM zinc-binding 2.					nucleus	zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		GAATTTAAGGGAAACTACTGG	0.373000														15			20		0	0	1	0	0
HAUS5	23354	broad.mit.edu	37	19	36108086	36108086	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:36108086C>T	uc002oam.1	+	6	597	c.546C>T	c.(544-546)ccC>ccT	p.P182P		NM_015302	NP_056117	O94927	HAUS5_HUMAN	Homo sapiens HAUS augmin-like complex, subunit 5 (HAUS5), mRNA.	182					cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|centrosome|microtubule|spindle				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						GCCTGGAGCCCGTGGTCCTGG	0.627000														38			9		0	0	1	0	0
BFSP1	631	broad.mit.edu	37	20	17475250	17475250	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr20:17475250G>A	uc002wpo.3	-	7	1506	c.1467C>T	c.(1465-1467)atC>atT	p.I489I	BFSP1_uc002wpp.3_Silent_p.I364I|BFSP1_uc010zrn.2_Silent_p.I350I|BFSP1_uc010zro.2_Silent_p.I350I	NM_001195	NP_001186	Q12934	BFSP1_HUMAN	Homo sapiens beaded filament structural protein 1, filensin (BFSP1), transcript variant 1, mRNA.	489	Tail.					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						CTTTAGCTGTGATGGAGGAGA	0.557000														30			16		0	0	1	0	0
MAGEA4	4103	broad.mit.edu	37	X	151092688	151092688	+	Silent	SNP	C	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:151092688C>A	uc022cgv.1	+	0	552	c.552C>A	c.(550-552)ggC>ggA	p.G184G	MAGEA4_uc004fez.3_Silent_p.G184G|MAGEA4_uc004ffa.3_Silent_p.G184G|MAGEA4_uc004ffb.3_Silent_p.G184G|MAGEA4_uc022cgu.1_Silent_p.G212G|MAGEA4_uc004ffc.3_Silent_p.G184G|MAGEA4_uc004ffd.3_Silent_p.G184G	NM_002362	NP_002353	P43358	MAGA4_HUMAN	Homo sapiens melanoma antigen family A, 4 (MAGEA4), transcript variant 2, mRNA.	184	MAGE.						protein binding			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CCTGCCTGGGCCTTTCCTATG	0.542000														15			50		2.89935e-36	2.95225e-36	1	1	0
ARMC4	55130	broad.mit.edu	37	10	28225719	28225719	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:28225719C>T	uc009xky.3	-	14	2286	c.2188G>A	c.(2188-2190)Gag>Aag	p.E730K	ARMC4_uc010qds.2_Missense_Mutation_p.E255K|ARMC4_uc010qdt.2_Missense_Mutation_p.E422K|ARMC4_uc001itz.3_Missense_Mutation_p.E730K	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	730							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						GCTAACCGCTCTTTATTGTCA	0.453000														88			44		0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150164375	150164375	+	Missense_Mutation	SNP	G	A	A	rs147231393		TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:150164375G>A	uc003whj.3	+	1	919	c.589G>A	c.(589-591)Gga>Aga	p.G197R		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	197						Golgi apparatus|endoplasmic reticulum|mitochondrion	GTP binding	p.G197G(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		GAATACGAACGGAGGACCCTA	0.423000														105			32		0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233394773	233394773	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:233394773C>T	uc001hvl.2	-	4	1070	c.835G>A	c.(835-837)Gag>Aag	p.E279K	PCNXL2_uc009xfu.3_Non-coding_Transcript|PCNXL2_uc009xfv.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	279						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				ACTGAATTCTCACTCCCCCAC	0.522000														22			9		0	0	1	0	0
PCK2	5106	broad.mit.edu	37	14	24569397	24569397	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:24569397C>T	uc001wlt.3	+	6	1341	c.1209C>T	c.(1207-1209)tcC>tcT	p.S403S	NRL_uc001wlq.3_Intron|PCK2_uc001wls.3_Silent_p.S403S|PCK2_uc010tnw.2_Silent_p.S269S|PCK2_uc010ald.2_3'UTR|PCK2_uc010ale.2_3'UTR|PCK2_uc010tnx.2_Silent_p.S269S|PCK2_uc001wlu.4_Silent_p.S269S	NM_004563	NP_004554	Q16822	PCKGM_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 2 (mitochondrial) (PCK2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	403					gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		CTGTGACCTCCTGGCTGGGCA	0.542000														17			11		0	0	1	0	0
LOXL2	4017	broad.mit.edu	37	8	23217758	23217758	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:23217758G>A	uc003xdh.1	-	2	715	c.376C>T	c.(376-378)Ctc>Ttc	p.L126F	LOC100507156_uc003xdj.3_Intron	NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN	Homo sapiens lysyl oxidase-like 2 (LOXL2), mRNA.	126	SRCR 1.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		GTACAGTGGAGATTGTCTAAC	0.577000														9			10		0	0	1	0	0
HNF4G	3174	broad.mit.edu	37	8	76463687	76463687	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:76463687C>T	uc003yaq.3	+	4	576	c.306C>T	c.(304-306)ccC>ccT	p.P102P	HNF4G_uc003yar.3_Silent_p.P139P	NM_004133	NP_004124	Q14541	HNF4G_HUMAN	Homo sapiens hepatocyte nuclear factor 4, gamma (HNF4G), mRNA.	102					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			GCAACATCCCCTCCATTAACA	0.448000														61			25		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140208418	140208418	+	Missense_Mutation	SNP	G	A	A	rs149898673		TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:140208418G>A	uc003lho.2	+	0	769	c.742G>A	c.(742-744)Gaa>Aaa	p.E248K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lhn.2_Missense_Mutation_p.E248K|PCDHAC2_uc011dab.2_Missense_Mutation_p.E248K	NM_018909	NP_061732	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.	263	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCTGAATACGAAGTAAGAAT	0.453000														41			31		0	0	1	0	0
CCDC144A	9720	broad.mit.edu	37	17	16664973	16664973	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:16664973G>A	uc002gqk.1	+	12	3683	c.3607G>A	c.(3607-3609)Gaa>Aaa	p.E1203K	CCDC144A_uc002gql.1_Missense_Mutation_p.E719K|CCDC144A_uc010cpj.1_Non-coding_Transcript	NM_014695	NP_055510	A2RUR9	C144A_HUMAN	Homo sapiens coiled-coil domain containing 144A (CCDC144A), mRNA.	1203																	ACTGTTGATTGAAGAAAGAGC	0.348000														35			14		0	0	1	0	0
NUPL2	11097	broad.mit.edu	37	7	23239112	23239112	+	Silent	SNP	A	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:23239112A>T	uc003svu.3	+	5	904	c.645A>T	c.(643-645)gcA>gcT	p.A215A	NUPL2_uc003svv.3_Non-coding_Transcript|NUPL2_uc011jyw.2_Non-coding_Transcript|NUPL2_uc011jyx.2_5'UTR	NM_007342	NP_031368	O15504	NUPL2_HUMAN	Homo sapiens nucleoporin like 2 (NUPL2), mRNA.	215					carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nuclear pore	nuclear export signal receptor activity|nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATCAAGCAGCACCTGCATTTG	0.358000														68			36		0	0	1	0	0
CDR1	1038	broad.mit.edu	37	X	139866196	139866196	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:139866196C>T	uc004fbg.1	-	0	528	c.336G>A	c.(334-336)ttG>ttA	p.L112L	AK054921_uc004fbf.1_Non-coding_Transcript	NM_004065	NP_004056	P51861	CDR1_HUMAN	Homo sapiens cerebellar degeneration-related protein 1, 34kDa (CDR1), mRNA.	112	23 X 6 AA approximate repeats.									breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				CTATAGCTTCCAAAAAATCCG	0.448000														12			29		0	0	1	0	0
HIF3A	64344	broad.mit.edu	37	19	46825222	46825222	+	Splice_Site	SNP	C	T	T	rs141145645		TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:46825222C>T	uc002peh.3	+	10	1366	c.1335_splice	c.e10+1	p.S445_splice	HIF3A_uc002peg.4_Splice_Site_p.S445_splice|HIF3A_uc010xxx.2_Splice_Site|HIF3A_uc021uwf.1_Splice_Site_p.S389_splice|HIF3A_uc002pej.2_Splice_Site_p.S376_splice|HIF3A_uc010xxy.2_Splice_Site_p.S376_splice|HIF3A_uc002pel.3_Splice_Site_p.S443_splice|HIF3A_uc010xxz.2_Splice_Site_p.S394_splice	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN	Homo sapiens hypoxia inducible factor 3, alpha subunit (HIF3A), transcript variant 3, mRNA.	445					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	p.S443L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		AGTCCTCTTTCGGTAAGCCAT	0.627000														21			23		0	0	1	0	0
CNR2	1269	broad.mit.edu	37	1	24201559	24201559	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:24201559G>A	uc021oij.1	-	0	549	c.549C>T	c.(547-549)ttC>ttT	p.F183F	CNR2_uc001bif.3_Silent_p.F183F	NM_001841	NP_001832	P34972	CNR2_HUMAN	Homo sapiens cannabinoid receptor 2 (macrophage) (CNR2), mRNA.	183					G-protein signaling, coupled to cyclic nucleotide second messenger|behavior|immune response|inflammatory response	dendrite|integral to plasma membrane|perikaryon	cannabinoid receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Nabilone(DB00486)	GGATCAGTGGGAAAAGCTCAG	0.567000														27			11		0	0	1	0	0
ROR2	4920	broad.mit.edu	37	9	94487012	94487012	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:94487012C>T	uc004arj.2	-	8	1963	c.1764G>A	c.(1762-1764)gaG>gaA	p.E588E	ROR2_uc004ari.1_Silent_p.E448E	NM_004560	NP_004551	Q01974	ROR2_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 2 (ROR2), mRNA.	588	Protein kinase.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						AGTCGGGGGGCTCCAGGGCGG	0.647000														10			21		0	0	1	0	0
SCAF1	58506	broad.mit.edu	37	19	50157994	50157994	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:50157994C>T	uc002poq.3	+	8	3609	c.3485C>T	c.(3484-3486)tCc>tTc	p.S1162F		NM_021228	NP_067051	Q9H7N4	SFR19_HUMAN	Homo sapiens SR-related CTD-associated factor 1 (SCAF1), mRNA.	1162					RNA splicing|mRNA processing	nucleus	RNA binding	p.P1161P(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		CCTGGCCCCTCCAGCTACCTG	0.677000														55			33		0	0	1	0	0
SP140	11262	broad.mit.edu	37	2	231112650	231112650	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:231112650G>A	uc002vql.3	+	7	877	c.762G>A	c.(760-762)atG>atA	p.M254I	SP140_uc010zma.1_Intron|SP140_uc002vqk.2_Missense_Mutation_p.M254I|SP140_uc002vqn.3_Intron|SP140_uc002vqm.3_Missense_Mutation_p.M228I|SP140_uc010fxl.3_Missense_Mutation_p.M254I	NM_007237	NP_009168	Q13342	LY10_HUMAN	Homo sapiens SP140 nuclear body protein (SP140), transcript variant 1, mRNA.	254					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GCAACGGGATGATAGATGCGG	0.443000														88			56		0	0	1	0	0
OR5H2	79310	broad.mit.edu	37	3	98002450	98002450	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:98002450G>A	uc003dsj.1	+	0	719	c.719G>A	c.(718-720)aGg>aAg	p.R240K		NM_001005482	NP_001005482	Q8NGV7	OR5H2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 2 (OR5H2), mRNA.	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						AGAGGCGTAAGGAAAGCCTTT	0.408000														16			11		0	0	1	0	0
SLC28A1	9154	broad.mit.edu	37	15	85438184	85438184	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:85438184C>T	uc002blg.3	+	5	493	c.291C>T	c.(289-291)ttC>ttT	p.F97F	SLC28A1_uc010upd.1_Silent_p.F19F|SLC28A1_uc010bnb.3_Silent_p.F97F|SLC28A1_uc010upe.2_Silent_p.F97F|SLC28A1_uc010upf.1_Silent_p.F97F|SLC28A1_uc010upg.1_Silent_p.F97F|SLC28A1_uc002blf.3_Silent_p.F97F	NM_004213	NP_004204	O00337	S28A1_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 (SLC28A1), transcript variant 1, mRNA.	97					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TCTCTGCCTTCCTGCTGGTGG	0.642000														39			24		0	0	1	0	0
PTPRK	5796	broad.mit.edu	37	6	128306884	128306884	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:128306884G>A	uc003qbk.3	-	21	3597	c.3230C>T	c.(3229-3231)cCc>cTc	p.P1077L	PTPRK_uc010kfc.3_Missense_Mutation_p.P1084L|PTPRK_uc003qbj.3_Missense_Mutation_p.P1078L|PTPRK_uc011ebu.2_Missense_Mutation_p.P1100L	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.	1077	Tyrosine-protein phosphatase 1.				cell migration|cellular response to UV|cellular response to reactive oxygen species|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TACAACGATGGGGCCAGCACT	0.483000														19			27		0	0	1	0	0
OR4N2	390429	broad.mit.edu	37	14	20296060	20296061	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:20296060_20296061GG>AT	uc010tkv.2	+	0	453_454	c.453_454GG>AT	c.(451-456)gggggt>ggATgt	p.G152C		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 2 (OR4N2), mRNA.	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGTGGCTTGGGGGTTTTGTCCA	0.530000														160			38		0	0	1	0	0
KCNQ3	3786	broad.mit.edu	37	8	133152388	133152388	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:133152388G>A	uc003ytj.3	-	10	1728	c.1503C>T	c.(1501-1503)ggC>ggT	p.G501G	KCNQ3_uc003yti.3_Silent_p.G381G|KCNQ3_uc010mdt.3_Silent_p.G501G	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA.	501					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CATTCCCATAGCCCCTGTCTT	0.622000														14			40		0	0	1	0	0
OR6T1	219874	broad.mit.edu	37	11	123814278	123814278	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:123814278G>A	uc010sab.2	-	0	268	c.268C>T	c.(268-270)Cac>Tac	p.H90Y		NM_001005187	NP_001005187	Q8NGN1	OR6T1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily T, member 1 (OR6T1), mRNA.	90					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GAGATGGTGTGATCCCCCGTG	0.493000														47			17		0	0	1	0	0
PLXDC2	84898	broad.mit.edu	37	10	20506484	20506484	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:20506484C>T	uc001iqg.1	+	10	1889	c.1252C>T	c.(1252-1254)Ccc>Tcc	p.P418S	PLXDC2_uc001iqh.1_Missense_Mutation_p.P369S|PLXDC2_uc009xkc.1_Non-coding_Transcript	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN	Homo sapiens plexin domain containing 2 (PLXDC2), mRNA.	418	Thr-rich.					integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						TTCTCAGTTTCCCACCAGCCT	0.438000														30			14		0	0	1	0	0
TGFBI	7045	broad.mit.edu	37	5	135396605	135396605	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:135396605C>T	uc003lbf.4	+	13	2047	c.1886C>T	c.(1885-1887)aCc>aTc	p.T629I	TGFBI_uc003lbg.4_Missense_Mutation_p.T362I|TGFBI_uc003lbh.4_Missense_Mutation_p.T455I|TGFBI_uc011cyb.2_Missense_Mutation_p.T455I|TGFBI_uc010jee.3_5'Flank	NM_000358	NP_000349	Q15582	BGH3_HUMAN	Homo sapiens transforming growth factor, beta-induced, 68kDa (TGFBI), mRNA.	629	FAS1 4.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CATGTCATCACCAATGTTCTG	0.483000														25			12		0	0	1	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36277934	36277934	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:36277934G>A	uc002obs.2	+	19	2223	c.2079G>A	c.(2077-2079)caG>caA	p.Q693Q	ARHGAP33_uc002obr.2_Silent_p.Q854Q|ARHGAP33_uc002obt.2_Silent_p.Q718Q|ARHGAP33_uc002obv.1_Silent_p.Q442Q	NM_052948	NP_443180	O14559	RHG33_HUMAN	Homo sapiens Rho GTPase activating protein 33 (ARHGAP33), transcript variant 1, mRNA.	748	Poly-Ser.				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						CCTGCCAGCAGGAGATGTGCA	0.701000														5			4		0	0	1	0	0
CAGE1	285782	broad.mit.edu	37	6	7374083	7374083	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:7374083G>A	uc003mxl.2	-	4	1500	c.969C>T	c.(967-969)atC>atT	p.I323I	CAGE1_uc003mxh.3_Non-coding_Transcript|CAGE1_uc021ylc.1_Silent_p.I187I|CAGE1_uc003mxj.3_Silent_p.I78I|CAGE1_uc003mxk.2_Silent_p.I323I	NM_001170692	NP_001164163	Q8TC20	CAGE1_HUMAN	Homo sapiens cancer antigen 1 (CAGE1), transcript variant 1, mRNA.	323										breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					GGAGTTCTTGGATTCGCACTT	0.378000														36			7		0	0	1	0	0
RTP2	344892	broad.mit.edu	37	3	187416329	187416329	+	Missense_Mutation	SNP	A	G	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:187416329A>G	uc003fro.1	-	1	1064	c.635T>C	c.(634-636)gTt>gCt	p.V212A		NM_001004312	NP_001004312	Q5QGT7	RTP2_HUMAN	Homo sapiens receptor (chemosensory) transporter protein 2 (RTP2), mRNA.	212					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding			large_intestine(3)|lung(14)|skin(1)	18	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)		CAGGTAAACAACGAGCAGGCA	0.577000														16			11		0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51735315	51735315	+	Silent	SNP	A	G	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:51735315A>G	uc003pah.1	-	46	7749	c.7473T>C	c.(7471-7473)tgT>tgC	p.C2491C	PKHD1_uc010jzn.1_Silent_p.C474C|PKHD1_uc003pai.3_Silent_p.C2491C	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	2491					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GTCCTTGGGAACAGTCTGAAC	0.353000														79			18		0	0	1	0	0
JPH1	56704	broad.mit.edu	37	8	75227464	75227464	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:75227464G>A	uc003yae.3	-	1	811	c.771C>T	c.(769-771)atC>atT	p.I257I	JPH1_uc003yaf.3_Silent_p.I257I|JPH1_uc003yag.1_Silent_p.I121I	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	Homo sapiens junctophilin 1 (JPH1), mRNA.	257	Ser-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			CGCCAAAGCTGATCGTGGAGT	0.562000														14			63		0	0	1	0	0
JAKMIP2	9832	broad.mit.edu	37	5	146991928	146991928	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:146991928G>A	uc010jgo.1	-	18	2501	c.2353C>T	c.(2353-2355)Cgt>Tgt	p.R785C	JAKMIP2_uc003loq.1_Missense_Mutation_p.R785C|JAKMIP2_uc011dbx.1_Missense_Mutation_p.R743C|JAKMIP2_uc003lor.1_Missense_Mutation_p.R764C|LOC153469_uc003lop.1_Intron	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 2 (JAKMIP2), mRNA.	785						Golgi apparatus		p.I784F(1)		NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTAAGTCACGAATTCTCTGA	0.299000														8			9		0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	36124729	36124729	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr13:36124729G>A	uc021rid.1	+	41	7235	c.6701G>A	c.(6700-6702)cGa>cAa	p.R2234Q	NBEA_uc021ric.1_Missense_Mutation_p.R2231Q|NBEA_uc010abi.3_Missense_Mutation_p.R890Q|NBEA_uc010tee.1_Missense_Mutation_p.R27Q|MAB21L1_uc001uvc.3_Intron|NBEA_uc010tef.2_Missense_Mutation_p.R27Q|NBEA_uc010teg.1_Missense_Mutation_p.R27Q	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	2234						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		ATGGCAAACCGAAGTAAGTCC	0.343000														16			7		0	0	1	0	0
MS4A10	341116	broad.mit.edu	37	11	60559761	60559761	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:60559761G>A	uc001npz.1	+	3	423	c.327G>A	c.(325-327)gcG>gcA	p.A109A		NM_206893	NP_996776	Q96PG2	M4A10_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 10 (MS4A10), mRNA.	109						integral to membrane	receptor activity	p.L108L(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|skin(2)	21						GGATCTTGGCGATAACAATGA	0.453000														75			36		0	0	1	0	0
TEF	7008	broad.mit.edu	37	22	41791933	41791933	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr22:41791933C>T	uc011apa.2	+	3	982	c.896C>T	c.(895-897)tCc>tTc	p.S299F	TEF_uc003azx.3_Missense_Mutation_p.S264F|TEF_uc003azy.3_Missense_Mutation_p.S294F	NM_001145398	NP_001138870	Q10587	TEF_HUMAN	Homo sapiens thyrotrophic embryonic factor (TEF), transcript variant 2, mRNA.	294					rhythmic process	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						ACCATCGTGTCCAAGTATGAG	0.642000														89			22		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32039945	32039945	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:32039945G>A	uc003nzl.2	-	12	5014	c.4812C>T	c.(4810-4812)ttC>ttT	p.F1604F		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1686	Fibronectin type-III 8.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CAAAGGAGTCGAATTCACCCT	0.612000														19			31		0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238275601	238275601	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:238275601G>A	uc002vwl.2	-	10	5514	c.5229C>T	c.(5227-5229)gtC>gtT	p.V1743V	COL6A3_uc002vwo.2_Silent_p.V1537V|COL6A3_uc010znj.1_Silent_p.V1136V	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1743	Nonhelical region.|VWFA 9.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CAATCTGAGGGACCCGCTGGT	0.587000														33			21		0	0	1	0	0
UPB1	51733	broad.mit.edu	37	22	24896075	24896075	+	Splice_Site	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr22:24896075G>A	uc003aaf.3	+	2	1400	c.105_splice	c.e2-1	p.R35_splice	UPB1_uc003aae.3_Intron	NM_016327	NP_057411	Q9UBR1	BUP1_HUMAN	Homo sapiens ureidopropionase, beta (UPB1), mRNA.	35					pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	beta-ureidopropionase activity|metal ion binding			endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	22	Colorectal(2;0.0339)					GCCCATCTAGGAAGCTTGATC	0.488000														95			28		0	0	1	0	0
LRRC36	55282	broad.mit.edu	37	16	67404995	67404995	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:67404995G>A	uc002esv.3	+	8	1363	c.1344G>A	c.(1342-1344)cgG>cgA	p.R448R	LRRC36_uc002esw.3_Non-coding_Transcript|LRRC36_uc010ceh.3_Silent_p.R180R|LRRC36_uc002esx.3_Silent_p.R327R|LRRC36_uc010vjk.2_Silent_p.R327R|LRRC36_uc010vjl.2_5'UTR	NM_018296	NP_060766	Q1X8D7	LRC36_HUMAN	Homo sapiens leucine rich repeat containing 36 (LRRC36), transcript variant 1, mRNA.	448										endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		CTCCTCTGCGGACACTGCTGT	0.463000														35			19		0	0	1	0	0
PLCZ1	89869	broad.mit.edu	37	12	18854660	18854660	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:18854660C>T	uc021qvx.1	-	7	1106	c.915G>A	c.(913-915)aaG>aaA	p.K305K	PLCZ1_uc001rdv.4_Silent_p.K201K|PLCZ1_uc001rdw.4_Silent_p.K46K|PLCZ1_uc001rdu.1_Silent_p.K46K|PLCZ1_uc009zil.1_Non-coding_Transcript	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN	Homo sapiens phospholipase C, zeta 1 (PLCZ1), mRNA.	305					intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					CATGGGTTTCCTTTAAGGTTC	0.383000														16			7		0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	169099283	169099283	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:169099283C>T	uc011bpj.1	-	1	470	c.67G>A	c.(67-69)Gaa>Aaa	p.E23K	MECOM_uc003ffl.2_5'UTR|MECOM_uc011bpk.1_Intron|MECOM_uc010hwn.2_Missense_Mutation_p.E23K|MECOM_uc011bpl.1_Missense_Mutation_p.E23K	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	23							sequence-specific DNA binding transcription factor activity	p.R22C(1)|p.C23*(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						AAAGGTATTTCAGGGTAGTTG	0.433000														14			8		0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152187696	152187696	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:152187696C>T	uc001ezt.1	-	2	6485	c.6409G>A	c.(6409-6411)Ggc>Agc	p.G2137S		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	2137					keratinization		calcium ion binding|protein binding	p.G2137C(2)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATCTAGAGCCGTGTTGTCCG	0.562000														601			23		0	0	1	0	0
RBFA	79863	broad.mit.edu	37	18	77805969	77805969	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr18:77805969C>T	uc002lns.3	+	6	996	c.846C>T	c.(844-846)gcC>gcT	p.A282A	RBFA_uc010drh.3_3'UTR|RBFA_uc010dri.2_Intron|RBFA_uc002lnu.3_5'Flank	NM_024805	NP_079081	Q8N0V3	RBFA_HUMAN	Homo sapiens ribosome binding factor A (putative) (RBFA), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	282					rRNA processing	mitochondrion				endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						GGAAGAGGGCCAAGCCCCGCC	0.587000														39			10		0	0	1	0	0
FAM83A	84985	broad.mit.edu	37	8	124195386	124195386	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:124195386C>T	uc003ypv.3	+	1	2304	c.290C>T	c.(289-291)tCc>tTc	p.S97F	FAM83A_uc003ypw.3_Missense_Mutation_p.S97F|U3_uc022bai.1_5'Flank|FAM83A_uc003ypx.3_Missense_Mutation_p.S97F|FAM83A_uc003ypy.3_Missense_Mutation_p.S97F|FAM83A_uc003ypz.3_Missense_Mutation_p.S97F	NM_032899	NP_116288	Q86UY5	FA83A_HUMAN	Homo sapiens family with sequence similarity 83, member A (FAM83A), transcript variant 1, mRNA.	97										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			GGACTGGACTCCAGCTCCCTA	0.677000														9			91		0	0	1	0	0
GPRC6A	222545	broad.mit.edu	37	6	117128105	117128105	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:117128105C>T	uc003pxj.1	-	2	785	c.763G>A	c.(763-765)Gaa>Aaa	p.E255K	GPRC6A_uc003pxk.1_Missense_Mutation_p.E255K|GPRC6A_uc003pxl.1_Missense_Mutation_p.E255K	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA.	255					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		ATTCTGACTTCAATGGTATTA	0.373000														12			17		0	0	1	0	0
TTLL11	158135	broad.mit.edu	37	9	124855690	124855690	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:124855690G>A	uc011lyl.2	-	0	196	c.8C>T	c.(7-9)gCc>gTc	p.A3V	TTLL11_uc004blr.3_Non-coding_Transcript|TTLL11_uc004blt.1_Missense_Mutation_p.A3V|TTLL11_uc004blu.1_Missense_Mutation_p.A3V	NM_001139442	NP_001132914	Q8NHH1	TTL11_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 11 (TTLL11), transcript variant 1, mRNA.	3					protein modification process	cilium|microtubule basal body	tubulin-tyrosine ligase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						AGAGGCAGCGGCGGCCATGTT	0.697000														0			2		0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138449932	138449932	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:138449932G>A	uc003ihe.4	-	1	2917	c.2530C>T	c.(2530-2532)Cag>Tag	p.Q844*	PCDH18_uc003ihf.4_Nonsense_Mutation_p.Q836*|PCDH18_uc011cgz.2_Nonsense_Mutation_p.Q55*|PCDH18_uc003ihg.4_Nonsense_Mutation_p.Q623*|PCDH18_uc011cha.2_Nonsense_Mutation_p.Q24*	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	844					brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.Y843C(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GGTCTTGGCTGATATTGCCCC	0.408000														63			48		0	0	1	0	0
GFAP	2670	broad.mit.edu	37	17	42992432	42992432	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:42992432C>T	uc021tyh.1	-	0	489	c.423G>A	c.(421-423)agG>agA	p.R141R	GFAP_uc002ihq.3_Silent_p.R141R|GFAP_uc002ihr.3_Silent_p.R141R|GFAP_uc010wjg.2_Non-coding_Transcript	NM_001242376	NP_001229305	P14136	GFAP_HUMAN	Homo sapiens glial fibrillary acidic protein (GFAP), transcript variant 3, mRNA.	141	Coil 1B.|Rod.					cytoplasm|intermediate filament	structural constituent of cytoskeleton			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				CCAGATTGTCCCTCTCAACCT	0.637000														28			10		0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124391388	124391389	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:124391388_124391389CC>TT	uc001lgk.1	+	46	6083_6084	c.5977_5978CC>TT	c.(5977-5979)cct>TTt	p.P1993F	DMBT1_uc001lgl.1_Missense_Mutation_p.P1983F|DMBT1_uc001lgm.1_Missense_Mutation_p.P1365F|DMBT1_uc021qaf.1_Missense_Mutation_p.P1993F|DMBT1_uc021qag.1_Missense_Mutation_p.P1983F|DMBT1_uc021qah.1_Missense_Mutation_p.P1365F|DMBT1_uc009xzz.1_Missense_Mutation_p.P1993F|DMBT1_uc010qtx.1_Missense_Mutation_p.P713F|DMBT1_uc009yab.1_Missense_Mutation_p.P696F|DMBT1_uc009yac.1_Missense_Mutation_p.P287F	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	1993					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TCTATCGACACCTGGTAAGTCC	0.495000														21			12		0	0	1	0	0
ALDH1A2	8854	broad.mit.edu	37	15	58285260	58285260	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:58285260G>A	uc002aex.3	-	5	840	c.567C>T	c.(565-567)ccC>ccT	p.P189P	ALDH1A2_uc010ugv.2_Silent_p.P168P|ALDH1A2_uc002aey.3_Silent_p.P189P|ALDH1A2_uc010ugw.2_Silent_p.P160P|ALDH1A2_uc002aew.3_Silent_p.P93P	NM_003888	NP_733798	O94788	AL1A2_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member A2 (ALDH1A2), transcript variant 1, mRNA.	189					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	ACATCAGCAGGGGGAAGTTCC	0.413000														28			14		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13719087	13719087	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:13719087G>A	uc003jfd.2	-	71	12445	c.12403C>T	c.(12403-12405)Cat>Tat	p.H4135Y	DNAH5_uc003jfc.2_Missense_Mutation_p.H303Y	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	4135	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.A4134S(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AACTGCTTATGAGCCTCGGTG	0.468000									Kartagener syndrome					53			28		0	0	1	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107460166	107460166	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:107460166G>A	uc002tdq.3	-	1	387	c.268C>T	c.(268-270)Cat>Tat	p.H90Y	ST6GAL2_uc002tdr.3_Missense_Mutation_p.H90Y|ST6GAL2_uc002tds.3_Missense_Mutation_p.H90Y	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	90					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	p.H90Y(4)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						GGCCCCGCATGAAAGGAACCG	0.627000														32			7		0	0	1	0	0
GPRC6A	222545	broad.mit.edu	37	6	117127686	117127686	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:117127686C>T	uc003pxj.1	-	2	1204	c.1182G>A	c.(1180-1182)agG>agA	p.R394R	GPRC6A_uc003pxk.1_Intron|GPRC6A_uc003pxl.1_Silent_p.R394R	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA.	394					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		TGACGAAGTTCCTTTCTATAG	0.443000														23			17		0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89348316	89348316	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:89348316G>A	uc002fmx.1	-	8	5095	c.4634C>T	c.(4633-4635)cCa>cTa	p.P1545L	ANKRD11_uc002fmy.1_Missense_Mutation_p.P1545L|ANKRD11_uc002fnc.1_Missense_Mutation_p.P1545L|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Missense_Mutation_p.P1502L	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	1545	Lys-rich.					nucleus		p.P1545Q(2)		breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CATCTTCACTGGGTCGCCCTT	0.587000														27			18		0	0	1	0	0
VNN1	8876	broad.mit.edu	37	6	133035073	133035073	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:133035073C>T	uc003qdo.3	-	0	122	c.102G>A	c.(100-102)gcG>gcA	p.A34A		NM_004666	NP_004657	O95497	VNN1_HUMAN	Homo sapiens vanin 1 (VNN1), mRNA.	34	CN hydrolase.				acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress	anchored to membrane|integral to membrane|plasma membrane	GPI anchor binding|pantetheine hydrolase activity			NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		TGGGCAATATCGCTGCATGCT	0.483000														18			21		0	0	1	0	0
VIL1	7429	broad.mit.edu	37	2	219294039	219294039	+	Missense_Mutation	SNP	A	G	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:219294039A>G	uc002vib.3	+	5	621	c.599A>G	c.(598-600)cAg>cGg	p.Q200R	VIL1_uc010zke.2_Intron|VIL1_uc002via.3_Missense_Mutation_p.Q200R|VIL1_uc002vic.1_Missense_Mutation_p.Q200R	NM_007127	NP_009058	P09327	VILI_HUMAN	Homo sapiens villin 1 (VIL1), mRNA.	200	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATCCGAGACCAGGAGCGGGGA	0.622000														62			38		0	0	1	0	0
GAP43	2596	broad.mit.edu	37	3	115395406	115395406	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:115395406G>A	uc003ebr.2	+	2	1359	c.685G>A	c.(685-687)Gcc>Acc	p.A229T	GAP43_uc003ebq.2_Missense_Mutation_p.A193T	NM_001130064	NP_001123536	P17677	NEUM_HUMAN	Homo sapiens growth associated protein 43 (GAP43), transcript variant 1, mRNA.	193					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding	cell junction|filopodium membrane|growth cone membrane|synapse	calmodulin binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		CAAGGCAACAGCCCAGCCTCC	0.612000														12			4		0	0	1	0	0
SCRIB	23513	broad.mit.edu	37	8	144886751	144886751	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:144886751G>A	uc003yzp.1	-	20	3003	c.2996C>T	c.(2995-2997)cCa>cTa	p.P999L	SCRIB_uc003yzn.1_5'Flank|SCRIB_uc003yzo.1_Missense_Mutation_p.P999L	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	Homo sapiens scribbled homolog (Drosophila) (SCRIB), transcript variant 2, mRNA.	999	Interaction with ARHGEF7.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	Scrib-APC-beta-catenin complex|cell-cell adherens junction	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CACTGGGTATGGCCCTTCCAA	0.672000														6			25		0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	151085968	151085968	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:151085968C>T	uc003eyp.3	+	22	3503	c.3374C>T	c.(3373-3375)gCg>gTg	p.A1125V	MED12L_uc011bnz.2_Missense_Mutation_p.A985V|P2RY12_uc011boa.2_Intron|P2RY12_uc003eyx.1_Intron|MED12L_uc003eyy.1_Missense_Mutation_p.A288V	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	1125					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		p.G1124G(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GAGCCTGGGGCGAGAATGACA	0.512000														30			19		0	0	1	0	0
LILRP2	79166	broad.mit.edu	37	19	55224545	55224545	+	RNA	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:55224545G>A	uc002qgs.1	+	0		c.4945G>A			LILRP2_uc002qgt.1_Intron					Homo sapiens leukocyte immunoglobulin-like receptor pseudogene 2 (LILRP2), non-coding RNA.																		CAGGGGTCCCGGGTGATGTTG	0.607000														18			12		0	0	1	0	0
OR5K3	403277	broad.mit.edu	37	3	98109615	98109615	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:98109615C>T	uc011bgw.2	+	0	106	c.106C>T	c.(106-108)Ctg>Ttg	p.L36L		NM_001005516	NP_001005516	A6NET4	OR5K3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 3 (OR5K3), mRNA.	36					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						TGCCATCTATCTGATCACCAT	0.403000														129			62		0	0	1	0	0
CCDC147	159686	broad.mit.edu	37	10	106121871	106121872	+	Missense_Mutation	DNP	GT	AG	AG			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:106121871_106121872GT>AG	uc001kyh.3	+	2	516_517	c.382_383GT>AG	c.(382-384)gtg>AGg	p.V128R		NM_001008723	NP_001008723	Q5T655	CC147_HUMAN	Homo sapiens coiled-coil domain containing 147 (CCDC147), mRNA.	128										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		AGAGGAAATAGTGAACCTGACC	0.465000														16			5		0	0	1	0	0
POU6F1	5463	broad.mit.edu	37	12	51585513	51585513	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:51585513G>A	uc001rxy.3	-	3	618	c.426C>T	c.(424-426)atC>atT	p.I142I	POU6F1_uc001rxz.3_Silent_p.I142I|POU6F1_uc001rya.3_Silent_p.I142I	NM_002702	NP_002693	Q14863	PO6F1_HUMAN	Homo sapiens POU class 6 homeobox 1 (POU6F1), transcript variant 1, mRNA.	142	POU-specific.				brain development|heart development|muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	11						CTTCTAAGTTGATCCCATCCT	0.552000														94			67		0	0	1	0	0
ACPT	93650	broad.mit.edu	37	19	51295018	51295018	+	Missense_Mutation	SNP	A	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:51295018A>T	uc002pta.1	+	3	409	c.409A>T	c.(409-411)Agg>Tgg	p.R137W		NM_033068	NP_149059	Q9BZG2	PPAT_HUMAN	Homo sapiens acid phosphatase, testicular (ACPT), mRNA.	137						integral to membrane	acid phosphatase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3)	11		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		GGCCCGCTGGAGGCCGATCCC	0.697000														11			6		0	0	1	0	0
ZNF57	126295	broad.mit.edu	37	19	2917901	2917901	+	Missense_Mutation	SNP	A	G	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:2917901A>G	uc002lwr.3	+	3	1430	c.1282A>G	c.(1282-1284)Acc>Gcc	p.T428A	ZNF57_uc010xha.2_Missense_Mutation_p.T396A	NM_173480	NP_775751	Q68EA5	ZNF57_HUMAN	Homo sapiens zinc finger protein 57 (ZNF57), mRNA.	428					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		ATGTGGAAAAACCTTCACTTG	0.453000														75			3		0	0	1	0	0
MMEL1	79258	broad.mit.edu	37	1	2526745	2526745	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:2526745C>T	uc001ajy.2	-	15	1768	c.1554G>A	c.(1552-1554)atG>atA	p.M518I	MMEL1_uc009vlg.1_Non-coding_Transcript	NM_033467	NP_258428	Q495T6	MMEL1_HUMAN	Homo sapiens membrane metallo-endopeptidase-like 1 (MMEL1), mRNA.	518			M -> T (in dbSNP:rs3748816).		proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		GGCGCCTGTTCATCTCCTCCA	0.652000														36			16		0	0	1	0	0
TCEAL6	158931	broad.mit.edu	37	X	101396257	101396257	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:101396257C>T	uc022cas.1	-	0	47	c.47G>A	c.(46-48)gGa>gAa	p.G16E	TCEAL6_uc004eiq.3_Missense_Mutation_p.G16E	NM_001006938	NP_001006939	Q6IPX3	TCAL6_HUMAN	Homo sapiens transcription elongation factor A (SII)-like 6 (TCEAL6), mRNA.	16	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	14						ttctggctttccctcGTTTTC	0.478000														2			9		0	0	1	0	0
CCR1	1230	broad.mit.edu	37	3	46245276	46245276	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:46245276C>T	uc003cph.1	-	1	600	c.529G>A	c.(529-531)Gaa>Aaa	p.E177K	CCR3_uc003cpg.2_Intron|CCR1_uc021wwy.1_Missense_Mutation_p.E177K	NM_001295	NP_001286	P32246	CCR1_HUMAN	Homo sapiens chemokine (C-C motif) receptor 1 (CCR1), mRNA.	177					G-protein signaling, coupled to cyclic nucleotide second messenger|cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane	C-C chemokine receptor activity			autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		TGAGTGAATTCCCATTGGGTC	0.512000														50			16		0	0	1	0	0
OR51L1	119682	broad.mit.edu	37	11	5020494	5020494	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:5020494C>T	uc010qyu.2	+	0	282	c.282C>T	c.(280-282)atC>atT	p.I94I		NM_001004755	NP_001004755	Q8NGJ5	O51L1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily L, member 1 (OR51L1), mRNA.	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTCCAGAGATCCAGGCAAGTG	0.478000														89			34		0	0	1	0	0
TMPRSS6	164656	broad.mit.edu	37	22	37465198	37465198	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr22:37465198G>A	uc003aqt.1	-	15	2090	c.2028C>T	c.(2026-2028)cgC>cgT	p.R676R	TMPRSS6_uc003aqs.1_Silent_p.R685R	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN	Homo sapiens transmembrane protease, serine 6 (TMPRSS6), mRNA.	685	Peptidase S1.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						GGCAGACGGGGCGCACGGCGG	0.726000														6			3		0	0	1	0	0
COPS2	9318	broad.mit.edu	37	15	49447856	49447856	+	Splice_Site	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:49447856C>T	uc001zxh.3	-	1	1	c.-78_splice	c.e1-1		GALK2_uc001zxi.1_5'Flank|COPS2_uc001zxf.3_Splice_Site|COPS2_uc010ufa.2_Splice_Site|LOC100306975_uc021sks.1_5'Flank	NM_001143887	NP_001137359	P61201	CSN2_HUMAN	Homo sapiens COP9 constitutive photomorphogenic homolog subunit 2 (Arabidopsis) (COPS2), transcript variant 2, mRNA.						cullin deneddylation|transcription from RNA polymerase II promoter	cytoplasm|signalosome	protein binding|signal transducer activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(2)	18		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		CTCTCAGCTTCTTTCCGCCTT	0.542000														6			3		0	0	1	0	0
MEPE	56955	broad.mit.edu	37	4	88766509	88766509	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:88766509C>T	uc021xpx.1	+	3	594	c.582C>T	c.(580-582)ctC>ctT	p.L194L	MEPE_uc021xpu.1_Silent_p.L163L|MEPE_uc021xpv.1_Silent_p.L50L|MEPE_uc021xpw.1_Silent_p.L50L|MEPE_uc010ikn.3_Silent_p.L50L|MEPE_uc003hqy.3_Silent_p.L163L|MEPE_uc021xpy.1_Silent_p.L50L	NM_001184697	NP_001171626	Q9NQ76	MEPE_HUMAN	Homo sapiens matrix extracellular phosphoglycoprotein (MEPE), transcript variant 5, mRNA.	163					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		CGATTAAACTCCTGGGGGAAG	0.403000														32			24		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113314071	113314071	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:113314071C>T	uc003ynu.3	-	52	8550	c.8391G>A	c.(8389-8391)agG>agA	p.R2797R	CSMD3_uc003yns.3_Silent_p.R1999R|CSMD3_uc003ynt.3_Silent_p.R2757R|CSMD3_uc011lhx.2_Silent_p.R2628R	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	2797	Sushi 17.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAAGGCATTCCCTTACAGCAG	0.443000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				81			17		0	0	1	0	0
RG9MTD2	93587	broad.mit.edu	37	4	100475086	100475086	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:100475086G>A	uc003huy.3	-	5	814	c.501C>T	c.(499-501)atC>atT	p.I167I	RG9MTD2_uc003huz.4_Silent_p.I167I|RG9MTD2_uc003hva.4_Silent_p.I167I	NM_152292	NP_689505	Q8TBZ6	RG9D2_HUMAN	Homo sapiens RNA (guanine-9-) methyltransferase domain containing 2 (RG9MTD2), transcript variant 1, mRNA.	167							methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|urinary_tract(2)	19				OV - Ovarian serous cystadenocarcinoma(123;1.7e-08)		GTTTGATATGGATATCCTTTA	0.323000														38			17		0	0	1	0	0
OR51G2	81282	broad.mit.edu	37	11	4936029	4936029	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:4936029G>A	uc001lzr.1	-	0	865	c.865C>T	c.(865-867)Cct>Tct	p.P289S		NM_001005238	NP_001005238	Q8NGK0	O51G2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily G, member 2 (OR51G2), mRNA.	289					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATCACAGGAGGAAAGAGAAGA	0.493000														19			15		0	0	1	0	0
UGT2B7	7364	broad.mit.edu	37	4	69978308	69978308	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:69978308G>A	uc003heg.4	+	5	1490	c.1444G>A	c.(1444-1446)Gac>Aac	p.D482N	UGT2B7_uc010ihq.3_3'UTR	NM_001074	NP_001065	P16662	UD2B7_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B7 (UGT2B7), mRNA.	482					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGCAGCCCACGACCTCACCTG	0.483000														119			66		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38797299	38797299	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:38797299G>A	uc003ciq.3	-	9	1441	c.1441C>T	c.(1441-1443)Cct>Tct	p.P481S		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	481					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	tGGTTGTAAGGATCAGAGCGG	0.488000														99			48		0	0	1	0	0
RLN3	117579	broad.mit.edu	37	19	14141657	14141657	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:14141657G>A	uc002mxw.1	+	1	326	c.326G>A	c.(325-327)gGa>gAa	p.G109E	IL27RA_uc002mxx.3_5'Flank|RLN3_uc010dzj.1_3'UTR	NM_080864	NP_543140	Q8WXF3	REL3_HUMAN	Homo sapiens relaxin 3 (RLN3), mRNA.	109						extracellular region	hormone activity			endometrium(1)|lung(4)	5						AGCTGGCAAGGAACCCCTGGG	0.622000														30			18		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179574513	179574513	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:179574513G>A	uc021vsy.1	-	95	25026	c.24801C>T	c.(24799-24801)ttC>ttT	p.F8267F	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.F4928F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9194	Ig-like 65.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTCAAGTTTGAAAGAATTCC	0.383000														49			30		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32039967	32039967	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:32039967C>T	uc003nzl.2	-	12	4992	c.4790G>A	c.(4789-4791)tGg>tAg	p.W1597*		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1679	Fibronectin type-III 8.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						AGGGACTGTCCATGAGAGGCC	0.632000														14			41		0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40656689	40656689	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:40656689G>A	uc002rrx.3	-	0	756	c.732C>T	c.(730-732)atC>atT	p.I244I	SLC8A1_uc002rry.3_Silent_p.I244I|SLC8A1_uc002rsb.2_Silent_p.I244I|SLC8A1_uc002rrz.3_Silent_p.I244I|SLC8A1_uc002rsa.3_Silent_p.I244I|SLC8A1_uc002rsd.4_Silent_p.I244I|SLC8A1_uc010fan.1_Silent_p.I244I|SLC8A1_uc002rsc.1_Silent_p.I244I	NM_021097	NP_066920	P32418	NAC1_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA.	244					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	ACACAACACAGATGGGAAAGA	0.448000														32			14		0	0	1	0	0
FUNDC2P2	388965	broad.mit.edu	37	2	84518394	84518394	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:84518394C>T	uc010ffz.1	+	0	589	c.452C>T	c.(451-453)tCc>tTc	p.S151F						Homo sapiens FUN14 domain containing 2 pseudogene 2 (FUNDC2P2), non-coding RNA.																		GGCATGGCATCCTAAAGAAGA	0.473000														70			45		0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	118199214	118199214	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:118199214G>A	uc001two.2	-	3	556	c.501C>T	c.(499-501)tcC>tcT	p.S167S		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	196					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGGGGCTCTGGGAGAGATGGG	0.652000														18			13		0	0	1	0	0
OR2A2	442361	broad.mit.edu	37	7	143806751	143806751	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:143806751C>T	uc011ktz.2	+	0	76	c.76C>T	c.(76-78)Ctc>Ttc	p.L26F		NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 2 (OR2A2), mRNA.	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L25I(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					GGCGATTCTCCTCTGTGGACT	0.512000														88			61		0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43858458	43858458	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:43858458C>T	uc010skx.2	-	9	1445	c.1445G>A	c.(1444-1446)cGa>cAa	p.R482Q		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	482	Disintegrin.					proteinaceous extracellular matrix	zinc ion binding	p.R482Q(3)|p.S481L(1)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TCCATCATATCGTGATCCAGG	0.383000														45			28		0	0	1	0	0
FRMPD1	22844	broad.mit.edu	37	9	37708421	37708421	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:37708421C>T	uc004aag.1	+	3	329	c.285C>T	c.(283-285)ttC>ttT	p.F95F	FRMPD1_uc004aah.1_Silent_p.F95F	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	Homo sapiens FERM and PDZ domain containing 1 (FRMPD1), mRNA.	95	PDZ.					cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		GCAAGCTTTTCCCTGGTGATC	0.483000														55			36		0	0	1	0	0
TSHB	7252	broad.mit.edu	37	1	115576716	115576716	+	Missense_Mutation	SNP	T	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:115576716T>A	uc001efs.1	+	2	353	c.285T>A	c.(283-285)ttT>ttA	p.F95L		NM_000549	NP_000540	P01222	TSHB_HUMAN	Homo sapiens thyroid stimulating hormone, beta (TSHB), mRNA.	95					G-protein coupled receptor protein signaling pathway|anatomical structure morphogenesis|cell-cell signaling|cellular nitrogen compound metabolic process|hormone biosynthetic process|peptide hormone processing	extracellular region	hormone activity			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7	Lung SC(450;0.211)	all_cancers(81;3.22e-07)|all_epithelial(167;1.4e-06)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		CTCCCTATTTTTCCTATCCTG	0.428000														129			74		0	0	1	0	0
C16orf59	80178	broad.mit.edu	37	16	2514543	2514543	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:2514543C>T	uc002cqh.3	+	9	1207	c.1176C>T	c.(1174-1176)ctC>ctT	p.L392L	C16orf59_uc002cqg.2_3'UTR|C16orf59_uc002cqi.3_Silent_p.L225L|C16orf59_uc010uwb.2_3'UTR	NM_025108	NP_079384	Q7L2K0	CP059_HUMAN	Homo sapiens chromosome 16 open reading frame 59 (C16orf59), mRNA.	392										lung(1)|skin(1)|urinary_tract(1)	3		Ovarian(90;0.17)				CTGAACTCCTCCCCCTGGTAA	0.706000														16			18		0	0	1	0	0
SPATA8	145946	broad.mit.edu	37	15	97326937	97326937	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:97326937G>A	uc002bue.3	+	0	259	c.52G>A	c.(52-54)Gaa>Aaa	p.E18K	DQ596112_uc021swx.1_5'Flank|DQ574554_uc021swy.1_5'Flank|DQ593500_uc010uro.1_5'Flank|DQ573064_uc021swz.1_5'Flank|DQ588115_uc021sxa.1_5'Flank|DQ591967_uc021sxb.1_5'Flank|DQ585716_uc021sxc.1_5'Flank|DQ570416_uc021sxd.1_5'Flank|DQ576557_uc010urp.2_5'Flank|DQ593900_uc021sxe.1_5'Flank|DQ594674_uc021sxf.1_5'Flank|DQ599954_uc002bud.2_5'Flank	NM_173499	NP_775770	Q6RVD6	SPAT8_HUMAN	Homo sapiens spermatogenesis associated 8 (SPATA8), mRNA.	18										large_intestine(4)|lung(8)|ovary(1)|skin(3)	16	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		OV - Ovarian serous cystadenocarcinoma(32;0.0718)			TCTCTACCAGGAAATTGCCCC	0.552000														31			14		0	0	1	0	0
PPARA	5465	broad.mit.edu	37	22	46628055	46628055	+	Missense_Mutation	SNP	G	C	C			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr22:46628055G>C	uc003bhb.1	+	5	1201	c.1078G>C	c.(1078-1080)Gat>Cat	p.D360H	PPARA_uc003bgw.1_Missense_Mutation_p.D360H|PPARA_uc003bgx.1_Missense_Mutation_p.D360H|PPARA_uc010hab.1_Missense_Mutation_p.D360H|PPARA_uc010hac.1_Missense_Mutation_p.D157H	NM_005036	NP_005027	Q07869	PPARA_HUMAN	Homo sapiens peroxisome proliferator-activated receptor alpha (PPARA), transcript variant 5, mRNA.	360	Ligand-binding.|Required for heterodimerization with RXRA.				fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)	ACCCAAGTTTGATTTTGCCAT	0.423000														206			43		0	0	1	0	0
MARK1	4139	broad.mit.edu	37	1	220804394	220804394	+	Silent	SNP	A	G	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:220804394A>G	uc009xdw.3	+	9	1524	c.927A>G	c.(925-927)cgA>cgG	p.R309R	MARK1_uc001hmn.4_Silent_p.R309R|MARK1_uc010pun.2_Silent_p.R309R|MARK1_uc001hmm.4_Silent_p.R287R	NM_018650	NP_061120	Q9P0L2	MARK1_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 1 (MARK1), mRNA.	309	Protein kinase.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		TGAAAGATCGATGGATGAATG	0.333000														61			3		0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	17110191	17110191	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:17110191C>T	uc001ioo.3	-	20	2932	c.2880G>A	c.(2878-2880)tgG>tgA	p.W960*		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	960	CUB 5.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CTAATATATGCCAAGTACAGT	0.383000														83			41		0	0	1	0	0
ATP10B	23120	broad.mit.edu	37	5	160039797	160039797	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:160039797C>T	uc003lym.1	-	17	3636	c.2789G>A	c.(2788-2790)aGa>aAa	p.R930K	ATP10B_uc010jit.1_Missense_Mutation_p.R247K|ATP10B_uc003lyn.3_Missense_Mutation_p.R488K	NM_025153	NP_079429	O94823	AT10B_HUMAN	Homo sapiens ATPase, class V, type 10B (ATP10B), mRNA.	930					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATTTAACAGTCTGCAGGAATG	0.483000														56			28		0	0	1	0	0
C10orf120	399814	broad.mit.edu	37	10	124459229	124459229	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:124459229C>T	uc001lgn.3	-	0	110	c.78G>A	c.(76-78)aaG>aaA	p.K26K		NM_001010912	NP_001010912	Q5SQS8	CJ120_HUMAN	Homo sapiens chromosome 10 open reading frame 120 (C10orf120), mRNA.	26										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				GCTTTTCATTCTTCCTTTCTT	0.448000														43			22		0	0	1	0	0
CFHR1	3078	broad.mit.edu	37	1	196794676	196794676	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:196794676C>T	uc001gtn.3	+	1	242	c.128C>T	c.(127-129)tCc>tTc	p.S43F	CFH_uc021pgt.1_Intron|CFHR1_uc001gtm.3_Intron	NM_002113	NP_002104	Q03591	FHR1_HUMAN	Homo sapiens complement factor H-related 1 (CFHR1), mRNA.	43	Sushi 1.				complement activation	extracellular space				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						AAGCCATTTTCCCAGGTTCCT	0.328000														5			15		0	0	1	0	0
CLVS2	134829	broad.mit.edu	37	6	123319015	123319015	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:123319015C>T	uc003pzi.1	+	1	962	c.93C>T	c.(91-93)atC>atT	p.I31I		NM_001010852	NP_001010852	Q5SYC1	CLVS2_HUMAN	Homo sapiens clavesin 2 (CLVS2), mRNA.	31					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	p.D30A(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						ACCAGGACATCCAGGAGGTGA	0.547000														16			15		0	0	1	0	0
FCN2	2220	broad.mit.edu	37	9	137772724	137772724	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:137772724C>T	uc004cfg.1	+	0	67	c.57C>T	c.(55-57)ttC>ttT	p.F19F	FCN2_uc004cfh.1_Silent_p.F19F	NM_004108	NP_004099	Q15485	FCN2_HUMAN	Homo sapiens ficolin (collagen/fibrinogen domain containing lectin) 2 (hucolin) (FCN2), transcript variant SV0, mRNA.	19					complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		TGCTCTCTTTCCTGGGCATGG	0.612000														11			8		0	0	1	0	0
OR8H3	390152	broad.mit.edu	37	11	55890037	55890037	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:55890037C>T	uc001nii.1	+	0	189	c.189C>T	c.(187-189)ttC>ttT	p.F63F		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 3 (OR8H3), mRNA.	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F63V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					TGTATTTTTTCCTTACTCACC	0.428000														157			81		0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53071640	53071640	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:53071640G>A	uc003xqz.2	-	9	1780	c.1624C>T	c.(1624-1626)Cct>Tct	p.P542S	ST18_uc011ldq.1_Missense_Mutation_p.P189S|ST18_uc011ldr.1_Missense_Mutation_p.P507S|ST18_uc011lds.1_Missense_Mutation_p.P447S|ST18_uc003xra.2_Missense_Mutation_p.P542S|ST18_uc003xrb.2_Missense_Mutation_p.P542S	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	542						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				AGTCGATTAGGAAATTTCACT	0.438000														19			41		0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155163822	155163822	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:155163822G>A	uc003inw.2	-	21	5679	c.5679C>T	c.(5677-5679)ctC>ctT	p.L1893L		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	1893	Cadherin 17.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CTTCAGAGGGGAGAAAAGCTG	0.393000														57			25		0	0	1	0	0
CAPN9	10753	broad.mit.edu	37	1	230898459	230898459	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:230898459G>A	uc001htz.1	+	3	576	c.463G>A	c.(463-465)Gac>Aac	p.D155N	CAPN9_uc009xfg.1_Missense_Mutation_p.D92N|CAPN9_uc001hua.1_Missense_Mutation_p.D155N	NM_006615	NP_006606	O14815	CAN9_HUMAN	Homo sapiens calpain 9 (CAPN9), transcript variant 1, mRNA.	155	Calpain catalytic.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				CACCTTCAGGGACCGCTTGGT	0.572000														20			20		0	0	1	0	0
DRD1	1812	broad.mit.edu	37	5	174870065	174870065	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:174870065C>T	uc003mcz.3	-	1	983	c.38G>A	c.(37-39)gGg>gAg	p.G13E	DRD1_uc021yia.1_Missense_Mutation_p.G13E	NM_000794	NP_000785	P21728	DRD1_HUMAN	Homo sapiens dopamine receptor D1 (DRD1), mRNA.	13					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding	p.G13W(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)	CACCACCAGCCCAGTCCCGTC	0.572000														84			36		0	0	1	0	0
OR7D2	162998	broad.mit.edu	37	19	9297013	9297013	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:9297013C>T	uc002mkz.1	+	0	744	c.556C>T	c.(556-558)Cag>Tag	p.Q186*		NM_175883	NP_787079	Q96RA2	OR7D2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily D, member 2 (OR7D2), mRNA.	186					regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						GTACATCCTCCAGCTGGCCTG	0.433000														132			64		0	0	1	0	0
CEACAM20	125931	broad.mit.edu	37	19	45026797	45026797	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:45026797G>A	uc010ejn.1	-	3	633	c.617C>T	c.(616-618)tCc>tTc	p.S206F	CEACAM20_uc010ejo.1_Missense_Mutation_p.S206F|CEACAM20_uc010ejp.1_Missense_Mutation_p.S206F|CEACAM20_uc010ejq.1_Missense_Mutation_p.S206F	NM_001102597	NP_001096067	Q6UY09	CEA20_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 20 (CEACAM20), transcript variant 5L, mRNA.	206	Ig-like C2-type 2.					integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				AGACAGAATGGAGTCAAGGAG	0.537000														21			10		0	0	1	0	0
CD300A	11314	broad.mit.edu	37	17	72469803	72469803	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:72469803C>T	uc002jkv.3	+	1	490	c.169C>T	c.(169-171)Cta>Tta	p.L57L	CD300A_uc002jkw.3_Intron|CD300A_uc010dfr.3_Intron|CD300A_uc010dfs.3_Intron	NM_007261	NP_009192	Q9UGN4	CLM8_HUMAN	Homo sapiens CD300a molecule (CD300A), mRNA.	57	Ig-like V-type.				cell adhesion	integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						ACAGATTTTCCTATGTGACAA	0.552000														34			27		0	0	1	0	0
SIAH3	283514	broad.mit.edu	37	13	46357741	46357741	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr13:46357741G>A	uc001vap.3	-	1	669	c.587C>T	c.(586-588)gCc>gTc	p.A196V		NM_198849	NP_942146	Q8IW03	SIAH3_HUMAN	Homo sapiens seven in absentia homolog 3 (Drosophila) (SIAH3), mRNA.	196					multicellular organismal development|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding			large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						GAAGCAGTCGGCCTGGGTGGG	0.592000														12			10		0	0	1	0	0
RTN2	6253	broad.mit.edu	37	19	45997989	45997990	+	Missense_Mutation	DNP	GG	AA	AA	rs146872063		TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:45997989_45997990GG>AA	uc002pcb.3	-	2	583_584	c.353_354CC>TT	c.(352-354)tcc>tTT	p.S118F	RTN2_uc002pcc.3_Missense_Mutation_p.S118F|RTN2_uc002pcd.3_Non-coding_Transcript	NM_005619	NP_005610	O75298	RTN2_HUMAN	Homo sapiens reticulon 2 (RTN2), transcript variant 1, mRNA.	118						integral to endoplasmic reticulum membrane	signal transducer activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		CAGGCTCCGGGGATTGGCTCAG	0.698000														40			22		0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	55933851	55933851	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:55933851C>T	uc003pcs.3	-	21	2316	c.2084G>A	c.(2083-2085)gGa>gAa	p.G695E	COL21A1_uc010jzz.3_Missense_Mutation_p.G80E|COL21A1_uc011dxg.2_Missense_Mutation_p.G80E|COL21A1_uc011dxh.2_Missense_Mutation_p.G80E|COL21A1_uc003pcr.3_Missense_Mutation_p.E53K	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	695	Collagen-like 4.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TACCTTTTTTCCTTGAATCCC	0.403000														21			5		0	0	1	0	0
THRB	7068	broad.mit.edu	37	3	24185073	24185073	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:24185073C>T	uc003ccz.4	-	8	1177	c.657G>A	c.(655-657)tgG>tgA	p.W219*	THRB_uc010hfe.3_Nonsense_Mutation_p.W219*|THRB_uc003ccy.4_Nonsense_Mutation_p.W219*|THRB_uc003ccx.4_Nonsense_Mutation_p.W219*	NM_001252634	NP_001239563	P10828	THB_HUMAN	Homo sapiens thyroid hormone receptor, beta (THRB), transcript variant 4, mRNA.	219					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Levothyroxine(DB00451)|Liothyronine(DB00279)	TGATGAGCTCCCATTCCTCGT	0.562000														54			31		0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56321518	56321518	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:56321518C>T	uc010ygf.2	-	4	1169	c.458G>A	c.(457-459)gGa>gAa	p.G153E	NLRP11_uc002qlz.3_Missense_Mutation_p.G54E|NLRP11_uc002qmb.3_Missense_Mutation_p.G54E|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	153	NACHT.						ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		TGCTCTCTCTCCCATCAGGAA	0.413000														24			17		0	0	1	0	0
OR11G2	390439	broad.mit.edu	37	14	20666123	20666123	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:20666123G>A	uc010tlb.2	+	0	629	c.629G>A	c.(628-630)aGg>aAg	p.R210K		NM_001005503	NP_001005503	Q8NGC1	O11G2_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily G, member 2 (OR11G2), mRNA.	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		TGTGGATCTAGGATTATTGAC	0.443000														19			19		0	0	1	0	0
C6	729	broad.mit.edu	37	5	41181619	41181619	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:41181619C>T	uc003jmk.2	-	6	979	c.769G>A	c.(769-771)Gat>Aat	p.D257N	C6_uc003jml.1_Missense_Mutation_p.D257N	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	257	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				GAAGTTAAATCCTTGTAGAAA	0.363000														27			11		0	0	1	0	0
OR6C4	341418	broad.mit.edu	37	12	55945174	55945174	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:55945174C>T	uc010spp.2	+	0	164	c.164C>T	c.(163-165)aCc>aTc	p.T55I		NM_001005494	NP_001005494	Q8NGE1	OR6C4_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 4 (OR6C4), mRNA.	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						CACCTCCAGACCCCCATGTAT	0.408000														188			95		0	0	1	0	0
KIF14	9928	broad.mit.edu	37	1	200572378	200572378	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:200572378G>A	uc010ppk.1	-	9	2394	c.1955C>T	c.(1954-1956)cCt>cTt	p.P652L	KIF14_uc010ppj.1_Missense_Mutation_p.P161L	NM_014875	NP_055690	Q15058	KIF14_HUMAN	Homo sapiens kinesin family member 14 (KIF14), mRNA.	652					microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						TTCACGATAAGGAATAAAAAC	0.338000														52			25		0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33477897	33477897	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:33477897C>T	uc021vft.1	+	10	2176	c.2153C>T	c.(2152-2154)cCc>cTc	p.P718L	LTBP1_uc002rou.3_Missense_Mutation_p.P392L|LTBP1_uc002rov.3_Missense_Mutation_p.P392L|LTBP1_uc010ymz.2_Missense_Mutation_p.P392L|LTBP1_uc010yna.2_Missense_Mutation_p.P392L	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA.	718	TB 2.				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GAGAAATGTCCCCTTCCAGGC	0.542000														78			48		0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	70964887	70964887	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:70964887C>T	uc003pfg.4	-	22	1736	c.1577G>A	c.(1576-1578)gGa>gAa	p.G526E	COL9A1_uc003pfe.4_Missense_Mutation_p.G99E|COL9A1_uc003pff.4_Missense_Mutation_p.G283E	NM_001851	NP_001842	P20849	CO9A1_HUMAN	Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.	526	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						ACCAGGAATTCCTCTAGCACC	0.438000														54			54		0	0	1	0	0
RREB1	6239	broad.mit.edu	37	6	7229527	7229527	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:7229527C>T	uc003mxb.3	+	9	1687	c.1195C>T	c.(1195-1197)Cag>Tag	p.Q399*	RREB1_uc021yky.1_Nonsense_Mutation_p.Q399*|RREB1_uc003mxc.3_Nonsense_Mutation_p.Q399*|RREB1_uc010jnx.3_Nonsense_Mutation_p.Q399*|RREB1_uc021ykz.1_Nonsense_Mutation_p.Q399*|RREB1_uc021yla.1_Intron	NM_001003699	NP_001003699	Q92766	RREB1_HUMAN	Homo sapiens ras responsive element binding protein 1 (RREB1), transcript variant 1, mRNA.	399					Ras protein signal transduction|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				ACTCAAGTGTCAGCTACCTCA	0.617000														19			44		0	0	1	0	0
SNRPA1	6627	broad.mit.edu	37	15	101825959	101825959	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:101825959G>A	uc002bww.3	-	6	664	c.587C>T	c.(586-588)cCa>cTa	p.P196L	SNRPA1_uc002bwx.3_Non-coding_Transcript|SNRPA1_uc010bpc.3_Non-coding_Transcript	NM_003090	NP_003081	P09661	RU2A_HUMAN	Homo sapiens small nuclear ribonucleoprotein polypeptide A' (SNRPA1), mRNA.	196						U2 snRNP|catalytic step 2 spliceosome|nucleoplasm	RNA binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	Lung NSC(78;0.00156)|all_lung(78;0.00195)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00113)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CCCTGGAGATGGCCCACCTTT	0.428000														50			29		0	0	1	0	0
C8A	731	broad.mit.edu	37	1	57378177	57378177	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:57378177C>T	uc001cyo.2	+	9	1614	c.1482C>T	c.(1480-1482)ttC>ttT	p.F494F		NM_000562	NP_000553	P07357	CO8A_HUMAN	Homo sapiens complement component 8, alpha polypeptide (C8A), mRNA.	494	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						TGATGGAATTCAATGCCTGCC	0.637000														41			25		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196753549	196753549	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:196753549C>T	uc002utj.4	-	31	5304	c.5203G>A	c.(5203-5205)Gat>Aat	p.D1735N		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1735	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ACTTCTAAATCCATTGGCTCA	0.348000														33			16		0	0	1	0	0
GZMK	3003	broad.mit.edu	37	5	54320183	54320183	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:54320183C>T	uc003jpl.1	+	0	77	c.33C>T	c.(31-33)ttC>ttT	p.F11F		NM_002104	NP_002095	P49863	GRAK_HUMAN	Homo sapiens granzyme K (granzyme 3; tryptase II) (GZMK), mRNA.	11					proteolysis	extracellular region	serine-type endopeptidase activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)	15		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				CTCTGTTTTTCCTAATAGTTG	0.303000														23			12		0	0	1	0	0
ATP13A4	84239	broad.mit.edu	37	3	193166098	193166098	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:193166098C>T	uc003ftd.3	-	17	2157	c.2049G>A	c.(2047-2049)ctG>ctA	p.L683L	ATP13A4_uc003fte.1_Silent_p.L683L|ATP13A4_uc011bsr.1_Silent_p.L154L|ATP13A4_uc010hzi.3_Non-coding_Transcript	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	Homo sapiens ATPase type 13A4 (ATP13A4), mRNA.	683					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		CCAGAAATATCAGGTCTGATT	0.408000														42			27		0	0	1	0	0
LILRB5	10990	broad.mit.edu	37	19	54760009	54760009	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:54760009G>A	uc010yer.1	-	3	636	c.525C>T	c.(523-525)ccC>ccT	p.P175P	LILRB3_uc002qew.2_Intron|LILRB5_uc002qey.3_Silent_p.P184P|LILRB5_uc002qez.3_Intron|LILRB5_uc002qex.3_Silent_p.P184P|LILRB5_uc002qfa.1_Intron|LILRB5_uc010yes.1_Intron			O75023	LIRB5_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 (LILRB5), transcript variant 1, mRNA.	184	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGGGGGTCACGGGACCCACAG	0.557000														21			12		0	0	1	0	0
CGNL1	84952	broad.mit.edu	37	15	57730860	57730860	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:57730860C>T	uc010bfw.3	+	2	856	c.663C>T	c.(661-663)tcC>tcT	p.S221S	CGNL1_uc002aeg.3_Silent_p.S221S	NM_001252335	NP_001239264	Q0VF96	CGNL1_HUMAN	Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA.	221	Head.					myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		TATGCAGCTCCGTGGTCATAG	0.537000														81			41		0	0	1	0	0
MFSD12	126321	broad.mit.edu	37	19	3557238	3557238	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:3557238G>A	uc002lxw.3	-	0	334	c.164C>T	c.(163-165)tCc>tTc	p.S55F	MFSD12_uc002lxx.3_Missense_Mutation_p.S55F|MFSD12_uc002lxy.3_Missense_Mutation_p.S55F|MFSD12_uc002lxz.3_Missense_Mutation_p.S55F	NM_021731	NP_068377	Q6NUT3	CS028_HUMAN	Homo sapiens major facilitator superfamily domain containing 12 (MFSD12), transcript variant 1, mRNA.	55					transmembrane transport	integral to membrane				cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						CGCGCCGCGGGAGCTGTAGGC	0.716000														11			4		0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189526224	189526224	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:189526224C>T	uc003fry.2	+	3	577	c.488C>T	c.(487-489)cCc>cTc	p.P163L	TP63_uc003frx.2_Missense_Mutation_p.P163L|TP63_uc003frz.2_Missense_Mutation_p.P163L|TP63_uc010hzc.1_Missense_Mutation_p.P163L|TP63_uc003fsa.2_Missense_Mutation_p.P69L|TP63_uc003fsb.2_Missense_Mutation_p.P69L|TP63_uc003fsc.2_Missense_Mutation_p.P69L|TP63_uc003fsd.2_Missense_Mutation_p.P69L|TP63_uc021xir.1_Missense_Mutation_p.P69L|TP63_uc010hzd.1_Intron|TP63_uc003fse.1_Missense_Mutation_p.P44L	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	163					DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation	Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		TCTCCATCACCCGCCATCCCC	0.632000										HNSCC(45;0.13)				39			24		0	0	1	0	0
RPE65	6121	broad.mit.edu	37	1	68906550	68906550	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:68906550G>A	uc001dei.1	-	5	683	c.629C>T	c.(628-630)cCa>cTa	p.P210L		NM_000329	NP_000320	Q16518	RPE65_HUMAN	Homo sapiens retinal pigment epithelium-specific protein 65kDa (RPE65), mRNA.	210					visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						TTGCAGTGGTGGGATCTTTAC	0.373000														36			25		0	0	1	0	0
TMEM225	338661	broad.mit.edu	37	11	123755341	123755341	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:123755341C>T	uc001pzi.3	-	1	392	c.184G>A	c.(184-186)Gac>Aac	p.D62N		NM_001013743	NP_001013765	Q6GV28	TM225_HUMAN	Homo sapiens transmembrane protein 225 (TMEM225), mRNA.	62						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						ACTTTCAGGTCATCTGTTGGA	0.423000														63			24		0	0	1	0	0
C10orf81	79949	broad.mit.edu	37	10	115535566	115535566	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:115535566C>T	uc001lat.2	+	9	1534	c.972C>T	c.(970-972)ttC>ttT	p.F324F	C10orf81_uc009xyc.2_Silent_p.F242F|C10orf81_uc001lar.2_Silent_p.F344F|C10orf81_uc001las.2_Silent_p.F242F|C10orf81_uc001lau.2_Silent_p.F158F	NM_182601	NP_872407	Q5SXH7	CJ081_HUMAN	Homo sapiens chromosome 10 open reading frame 81 (C10orf81), transcript variant 1, mRNA.	338										central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)	15		Colorectal(252;0.175)		Epithelial(162;0.0181)|all cancers(201;0.0204)		TGAACGTTTTCCTTTCTCCTC	0.433000														54			47		0	0	1	0	0
KRT3	3850	broad.mit.edu	37	12	53188041	53188041	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:53188041G>A	uc001say.3	-	1	786	c.720C>T	c.(718-720)tcC>tcT	p.S240S		NM_057088	NP_476429	P12035	K2C3_HUMAN	Homo sapiens keratin 3 (KRT3), mRNA.	240	Linker 1.|Rod.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity	p.S240F(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						TGCCTGAGATGGAACTTGTGC	0.542000														59			37		0	0	1	0	0
TRIM55	84675	broad.mit.edu	37	8	67039647	67039647	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:67039647G>A	uc003xvv.3	+	0	370	c.144G>A	c.(142-144)agG>agA	p.R48R	TRIM55_uc003xvu.3_Silent_p.R48R|TRIM55_uc003xvw.3_Silent_p.R48R|TRIM55_uc003xvx.3_Silent_p.R48R	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	Homo sapiens tripartite motif containing 55 (TRIM55), transcript variant 1, mRNA.	48						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			ACCTGTGTAGGAAATGTGCCA	0.448000														55			220		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55539327	55539327	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:55539327G>A	uc003xsd.1	+	3	3033	c.2885G>A	c.(2884-2886)gGa>gAa	p.G962E	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	962					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ACAAATTCTGGAAAAATAAGT	0.313000														27			54		0	0	1	0	0
FAM22F	54754	broad.mit.edu	37	9	97081303	97081303	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:97081303G>A	uc004aup.1	-	6	1736	c.1715C>T	c.(1714-1716)tCc>tTc	p.S572F		NM_017561	NP_060031	A1L443	FA22F_HUMAN	Homo sapiens family with sequence similarity 22, member F (FAM22F), mRNA.	572										central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(2)|prostate(2)|skin(2)|urinary_tract(1)	19		Acute lymphoblastic leukemia(62;0.136)				AGGGTCTTCGGACCTGGCCAT	0.657000														8			14		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100682004	100682004	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:100682004C>T	uc003uxp.1	+	2	7360	c.7307C>T	c.(7306-7308)tCa>tTa	p.S2436L	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	2436	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GAAGCCAGTTCATCTCCTACA	0.547000														415			201		0	0	1	0	0
GLRA2	2742	broad.mit.edu	37	X	14627259	14627259	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:14627259G>A	uc010neq.3	+	6	1622	c.862G>A	c.(862-864)Gca>Aca	p.A288T	GLRA2_uc004cwe.4_Missense_Mutation_p.A288T|GLRA2_uc011mio.2_Missense_Mutation_p.A199T|GLRA2_uc010nep.3_Missense_Mutation_p.A288T|GLRA2_uc011mip.2_Missense_Mutation_p.A266T	NM_002063	NP_002054	P23416	GLRA2_HUMAN	Homo sapiens glycine receptor, alpha 2 (GLRA2), transcript variant 1, mRNA.	288					neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	p.A288T(2)|p.A288S(2)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	TGCCAGGGTCGCACTGGGCAT	0.468000														60			10		0	0	1	0	0
CCNJL	79616	broad.mit.edu	37	5	159680725	159680725	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:159680725G>A	uc003lyb.1	-	6	1220	c.968C>T	c.(967-969)cCc>cTc	p.P323L	CCNJL_uc011dee.1_Missense_Mutation_p.P275L|CCNJL_uc003lyc.1_Non-coding_Transcript	NM_024565	NP_078841	Q8IV13	CCNJL_HUMAN	Homo sapiens cyclin J-like (CCNJL), mRNA.	323						nucleus				endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CACTTGAGTGGGGGTGGGGGG	0.642000														37			20		0	0	1	0	0
EPHB4	2050	broad.mit.edu	37	7	100420164	100420164	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:100420164C>T	uc003uwn.1	-	3	1028	c.537G>A	c.(535-537)caG>caA	p.Q179Q	EPHB4_uc003uwm.1_Silent_p.Q86Q|EPHB4_uc010lhj.1_Silent_p.Q179Q|EPHB4_uc011kkf.1_Silent_p.Q179Q|EPHB4_uc011kkg.1_Silent_p.Q179Q|EPHB4_uc011kkh.1_Silent_p.Q179Q	NM_004444	NP_004435	P54760	EPHB4_HUMAN	Homo sapiens EPH receptor B4 (EPHB4), mRNA.	179					cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					CACCCTGGTCCTGGAAGGCCA	0.627000														14			10		0	0	1	0	0
TF	7018	broad.mit.edu	37	3	133475801	133475801	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:133475801G>A	uc003epu.2	+	11	2546	c.818G>A	c.(817-819)cGa>cAa	p.R273Q	TF_uc011blt.2_Missense_Mutation_p.R146Q|TF_uc003epw.2_Intron|TF_uc003epv.2_Missense_Mutation_p.R273Q	NM_001063	NP_001054	P02787	TRFE_HUMAN	Homo sapiens transferrin (TF), mRNA.	273	Transferrin-like 1.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	GTCGTGGCCCGAAGTATGGGC	0.592000														58			40		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9059844	9059844	+	Missense_Mutation	SNP	G	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:9059844G>T	uc002mkp.3	-	2	27806	c.27602C>A	c.(27601-27603)cCa>cAa	p.P9201Q		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9203	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCTCAAATTTGGGGGTGAACT	0.488000														67			46		2.67592e-24	2.72072e-24	1	1	0
MAPK12	6300	broad.mit.edu	37	22	50693725	50693725	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr22:50693725G>A	uc003bkm.1	-	10	1076	c.925C>T	c.(925-927)Ccc>Tcc	p.P309S	MAPK12_uc003bko.2_Missense_Mutation_p.P219S|MAPK12_uc003bkl.1_Missense_Mutation_p.P299S|MAPK12_uc003bkq.2_Missense_Mutation_p.P128S	NM_002969	NP_002960	P53778	MK12_HUMAN	Homo sapiens mitogen-activated protein kinase 12 (MAPK12), mRNA.	309	Protein kinase.				DNA damage induced protein phosphorylation|Ras protein signal transduction|cell cycle arrest|muscle organ development|myoblast differentiation|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation	mitochondrion|nucleoplasm	ATP binding|MAP kinase activity|magnesium ion binding|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TCGAAGTAGGGATGGGCCAGC	0.617000														90			33		0	0	1	0	0
TBCK	93627	broad.mit.edu	37	4	106967810	106967810	+	Missense_Mutation	SNP	A	G	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:106967810A>G	uc010ilv.2	-	25	2964	c.2599T>C	c.(2599-2601)Tat>Cat	p.Y867H	TBCK_uc003hyb.2_Missense_Mutation_p.Y610H|TBCK_uc003hye.2_Missense_Mutation_p.Y828H|TBCK_uc003hyc.2_Missense_Mutation_p.Y804H|TBCK_uc003hyd.2_Missense_Mutation_p.Y695H|TBCK_uc003hyf.2_Missense_Mutation_p.Y867H	NM_001163435	NP_001156908	Q8TEA7	TBCK_HUMAN	Homo sapiens TBC1 domain containing kinase (TBCK), transcript variant 1, mRNA.	867	Rhodanese.					intracellular	Rab GTPase activator activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						ATTCTTGGATATTTCATCTTC	0.378000														18			11		0	0	1	0	0
KCNQ2	3785	broad.mit.edu	37	20	62038078	62038078	+	Missense_Mutation	SNP	A	C	C			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr20:62038078A>C	uc002yey.1	-	16	2715	c.2538T>G	c.(2536-2538)tgT>tgG	p.C846W	KCNQ2_uc002yez.1_Missense_Mutation_p.C815W|KCNQ2_uc002yfa.1_Missense_Mutation_p.C828W|KCNQ2_uc002yfb.1_Missense_Mutation_p.C818W	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 2 (KCNQ2), transcript variant 1, mRNA.	846					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	CGCACGGGGTACAGAGGTCGG	0.697000														7			3		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181702805	181702805	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:181702805G>A	uc009wxt.3	+	20	3376	c.3181G>A	c.(3181-3183)Gac>Aac	p.D1061N	CACNA1E_uc001gow.3_Missense_Mutation_p.D1061N|CACNA1E_uc009wxs.3_Missense_Mutation_p.D1042N|CACNA1E_uc001gox.1_Missense_Mutation_p.D287N	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1061					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GGCCAACACGGACAAGGCCAC	0.642000														13			16		0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118581982	118581982	+	Missense_Mutation	SNP	C	G	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:118581982C>G	uc001ehk.2	-	22	3320	c.3252G>C	c.(3250-3252)aaG>aaC	p.K1084N		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	1084						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CTTTCTCTTCCTTTTTCACAA	0.378000														32			18		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126336611	126336611	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:126336611G>A	uc003ifj.4	+	4	6493	c.6493G>A	c.(6493-6495)Gaa>Aaa	p.E2165K	FAT4_uc011cgp.2_Missense_Mutation_p.E463K	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	2165	Cadherin 21.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GGAGATTAATGAAAACACACT	0.388000														50			32		0	0	1	0	0
ADORA2B	136	broad.mit.edu	37	17	15878535	15878535	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:15878535G>A	uc002gpd.1	+	1	1210	c.878G>A	c.(877-879)cGg>cAg	p.R293Q		NM_000676	NP_000667	P29275	AA2BR_HUMAN	Homo sapiens adenosine A2b receptor (ADORA2B), mRNA.	293					JNK cascade|activation of MAPK activity|cellular defense response|excretion	integral to plasma membrane				breast(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)	9				UCEC - Uterine corpus endometrioid carcinoma (92;0.0855)	Defibrotide(DB04932)|Enprofylline(DB00824)|Pegademase bovine(DB00061)|Theophylline(DB00277)	TATGCTTACCGGAACCGAGAC	0.473000														85			56		0	0	1	0	0
MICAL3	57553	broad.mit.edu	37	22	18300864	18300864	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr22:18300864G>A	uc002zng.4	-	25	4916	c.4563C>T	c.(4561-4563)ccC>ccT	p.P1521P	MICAL3_uc011agl.2_Silent_p.P1437P|MICAL3_uc010gre.2_5'Flank	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 3 (MICAL3), transcript variant 1, mRNA.	1521						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CATCAGCAAAGGGAATCTCCT	0.642000														20			4		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179437307	179437307	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:179437307C>T	uc021vsy.1	-	274	66073	c.65848G>A	c.(65848-65850)Gat>Aat	p.D21950N	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.D15645N|TTN_uc021vta.1_Missense_Mutation_p.D15578N|TTN_uc021vtb.1_Missense_Mutation_p.D15453N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	22877	Fibronectin type-III 59.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTGGTGTATCGAGAACTCTA	0.418000														32			23		0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193061778	193061778	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:193061778G>A	uc011bsq.2	-	8	881	c.881C>T	c.(880-882)tCa>tTa	p.S294L		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	Homo sapiens ATPase type 13A5 (ATP13A5), mRNA.	294					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		ACATGGCAATGAAAATTTTCC	0.463000														31			10		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100682001	100682001	+	Missense_Mutation	SNP	G	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:100682001G>T	uc003uxp.1	+	2	7357	c.7304G>T	c.(7303-7305)aGt>aTt	p.S2435I	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	2435	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACTGAAGCCAGTTCATCTCCT	0.547000														416			212		2.69335e-108	2.74791e-108	1	1	0
CDKL3	51265	broad.mit.edu	37	5	133657530	133657530	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:133657530G>A	uc003kzf.4	-	4	723	c.604C>T	c.(604-606)Cct>Tct	p.P202S	CDKL3_uc011cxm.1_Missense_Mutation_p.P9S|CDKL3_uc011cxn.1_Non-coding_Transcript|CDKL3_uc010jdw.2_5'UTR|CDKL3_uc011cxo.1_5'UTR|CDKL3_uc011cxp.1_5'UTR|CDKL3_uc011cxq.2_Missense_Mutation_p.P9S|CDKL3_uc003kzg.4_Missense_Mutation_p.P202S|CDKL3_uc011cxr.1_Missense_Mutation_p.P202S	NM_001113575	NP_001107047	Q8IVW4	CDKL3_HUMAN	Homo sapiens cyclin-dependent kinase-like 3 (CDKL3), transcript variant 1, mRNA.	202	Protein kinase.					cytoplasm	ATP binding|cyclin-dependent protein kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(3)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GAACTACTAGGAAGATAGGGA	0.358000														19			19		0	0	1	0	0
AGTR2	186	broad.mit.edu	37	X	115304184	115304184	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:115304184C>T	uc022cdd.1	+	0	651	c.651C>T	c.(649-651)atC>atT	p.I217I	AGTR2_uc004eqh.4_Silent_p.I217I	NM_000686	NP_000677	P50052	AGTR2_HUMAN	Homo sapiens angiotensin II receptor, type 2 (AGTR2), mRNA.	217					G-protein signaling, coupled to cGMP nucleotide second messenger|behavior|blood vessel remodeling|brain development|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24						TGAAAAATATCCTTGGTTTTA	0.373000														9			23		0	0	1	0	0
OR6S1	341799	broad.mit.edu	37	14	21109402	21109402	+	Missense_Mutation	SNP	C	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:21109402C>A	uc001vxv.1	-	0	449	c.449G>T	c.(448-450)tGc>tTc	p.C150F		NM_001001968	NP_001001968	Q8NH40	OR6S1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily S, member 1 (OR6S1), mRNA.	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		CCCCACCCAGCAGGCCAAGGC	0.597000														22			11		6.72482e-11	6.79059e-11	1	1	0
NTN4	59277	broad.mit.edu	37	12	96180938	96180938	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:96180938C>T	uc001tei.3	-	1	813	c.364G>A	c.(364-366)Gaa>Aaa	p.E122K	NTN4_uc009ztf.3_Missense_Mutation_p.E122K|NTN4_uc009ztg.3_Missense_Mutation_p.E85K	NM_021229	NP_067052	Q9HB63	NET4_HUMAN	Homo sapiens netrin 4 (NTN4), mRNA.	122	Laminin N-terminal.				axon guidance	basement membrane|plasma membrane				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						AATTCAGCTTCCAGGTCTAAC	0.537000														28			18		0	0	1	0	0
LAMB3	3914	broad.mit.edu	37	1	209788748	209788748	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:209788748C>T	uc001hhg.3	-	21	3777	c.3387G>A	c.(3385-3387)atG>atA	p.M1129I	LAMB3_uc009xco.3_Missense_Mutation_p.M1129I|LAMB3_uc001hhh.3_Missense_Mutation_p.M1129I	NM_001017402	NP_001121113	Q13751	LAMB3_HUMAN	Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA.	1129	Domain I.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GCTCCAACTCCATGTCTGAGG	0.587000														36			26		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54306845	54306845	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:54306845C>T	uc021smr.1	+	0	1745	c.1745C>T	c.(1744-1746)tCg>tTg	p.S582L	UNC13C_uc021sms.1_Missense_Mutation_p.S582L	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	582					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CTGTCATCTTCGGACCGGGAG	0.448000														20			9		0	0	1	0	0
SKOR1	390598	broad.mit.edu	37	15	68124983	68124983	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:68124983C>T	uc002aqy.1	+	7	2569	c.2569C>T	c.(2569-2571)Cga>Tga	p.R857*		NM_001031807	NP_001026977	P84550	SKOR1_HUMAN	Homo sapiens SKI family transcriptional corepressor 1 (SKOR1), mRNA.	901					negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	SMAD binding|nucleotide binding|transcription repressor activity			endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						ATTGGCTTATCGAGAAGAAAT	0.517000											OREG0023215	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		50			34		0	0	1	0	0
GJA1	2697	broad.mit.edu	37	6	121768796	121768796	+	Missense_Mutation	SNP	T	C	C			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:121768796T>C	uc003pyr.3	+	1	1053	c.803T>C	c.(802-804)tTc>tCc	p.F268S	GJA1_uc011ebo.1_Missense_Mutation_p.F169S|GJA1_uc011ebp.1_Missense_Mutation_p.F56S|GJA1_uc021zel.1_Missense_Mutation_p.F268S	NM_000165	NP_000156	P17302	CXA1_HUMAN	Homo sapiens gap junction protein, alpha 1, 43kDa (GJA1), mRNA.	268					cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|connexon complex|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	TATGCTTATTTCAATGGCTGC	0.527000														15			10		0	0	1	0	0
RAB3C	115827	broad.mit.edu	37	5	57913682	57913682	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:57913682C>T	uc003jrp.3	+	1	334	c.237C>T	c.(235-237)atC>atT	p.I79I		NM_138453	NP_612462	Q96E17	RAB3C_HUMAN	Homo sapiens RAB3C, member RAS oncogene family (RAB3C), mRNA.	79					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)	21		all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664)		OV - Ovarian serous cystadenocarcinoma(10;1.8e-34)		AAAAGAGAATCAAGCTTCAGA	0.398000														8			9		0	0	1	0	0
ZC3H7B	23264	broad.mit.edu	37	22	41752719	41752719	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr22:41752719C>T	uc003azw.3	+	21	2804	c.2588C>T	c.(2587-2589)tCc>tTc	p.S863F		NM_017590	NP_060060	Q9UGR2	Z3H7B_HUMAN	Homo sapiens zinc finger CCCH-type containing 7B (ZC3H7B), mRNA.	879					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CACATCCAGTCCGAGAAGCAC	0.622000														75			75		0	0	1	0	0
KIF6	221458	broad.mit.edu	37	6	39688490	39688490	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:39688490C>T	uc003oot.2	-	1	259	c.164G>A	c.(163-165)aGc>aAc	p.S55N	KIF6_uc011dua.1_Missense_Mutation_p.S55N|KIF6_uc010jxb.1_Missense_Mutation_p.S55N	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN	Homo sapiens kinesin family member 6 (KIF6), mRNA.	55	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						AAATTTGTAGCTTTCTCGCTT	0.303000														69			10		0	0	1	0	0
ZSWIM4	65249	broad.mit.edu	37	19	13915760	13915760	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:13915760C>T	uc002mxh.1	+	2	699	c.510C>T	c.(508-510)gcC>gcT	p.A170A	ZSWIM4_uc010xng.1_5'UTR	NM_023072	NP_075560	Q9H7M6	ZSWM4_HUMAN	Homo sapiens zinc finger, SWIM-type containing 4 (ZSWIM4), mRNA.	170							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			ACGTGGTGGCCCTGTCCCTGT	0.622000											OREG0025298	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		43			19		0	0	1	0	0
HCFC2	29915	broad.mit.edu	37	12	104458467	104458468	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:104458467_104458468GG>AA	uc001tkj.4	+	0	232_233	c.129_130GG>AA	c.(127-132)gagggc>gaAAgc	p.G44S	HCFC2_uc009zul.3_Non-coding_Transcript|GLT8D2_uc001tki.1_5'Flank	NM_013320	NP_037452	Q9Y5Z7	HCFC2_HUMAN	Homo sapiens host cell factor C2 (HCFC2), mRNA.	44					regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						GGGGAAATGAGGGCATCGCGGA	0.708000														25			9		0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89398201	89398201	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:89398201C>T	uc010upo.1	+	11	2759	c.2385C>T	c.(2383-2385)ccC>ccT	p.P795P	ACAN_uc010upp.1_Silent_p.P795P|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	795					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TGCCATTCCCCTCAGAGGAGC	0.602000														14			5		0	0	1	0	0
PAX9	5083	broad.mit.edu	37	14	37145561	37145561	+	Missense_Mutation	SNP	G	T	T	rs116602527	by1000genomes	TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:37145561G>T	uc001wty.4	+	4	1656	c.930G>T	c.(928-930)ttG>ttT	p.L310F	PAX9_uc010amq.3_Non-coding_Transcript	NM_006194	NP_006185	P55771	PAX9_HUMAN	Homo sapiens paired box 9 (PAX9), mRNA.	310					multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3)	12	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)		GCACCTCATTGTCTCCCCACA	0.572000														103			64		7.31121e-38	7.45195e-38	1	1	0
KRT78	196374	broad.mit.edu	37	12	53238373	53238373	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:53238373C>T	uc001sbc.1	-	4	955	c.891G>A	c.(889-891)aaG>aaA	p.K297K		NM_173352	NP_775487	Q8N1N4	K2C78_HUMAN	Homo sapiens keratin 78 (KRT78), mRNA.	297	Coil 2.|Rod.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						CAGCCTCAGCCTTGCTGCTCC	0.612000														64			38		0	0	1	0	0
MYBPC2	4606	broad.mit.edu	37	19	50957612	50957612	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:50957612G>A	uc002psf.2	+	17	2051	c.2000G>A	c.(1999-2001)gGg>gAg	p.G667E		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	Homo sapiens myosin binding protein C, fast type (MYBPC2), mRNA.	667	Fibronectin type-III 1.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		TACGATGGGGGGAAGCCAGTC	0.537000														45			18		0	0	1	0	0
ATP1A1	476	broad.mit.edu	37	1	116933447	116933447	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:116933447C>T	uc001ege.3	+	9	1605	c.1266C>T	c.(1264-1266)tcC>tcT	p.S422S	ATP1A1_uc010owv.1_Silent_p.S391S|ATP1A1_uc010oww.2_Silent_p.S422S|ATP1A1_uc010owx.2_Silent_p.S391S	NM_000701	NP_001153706	P05023	AT1A1_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 1 polypeptide (ATP1A1), transcript variant 1, mRNA.	422					ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	TTGCTCTGTCCAGAATTGCAG	0.433000														79			43		0	0	1	0	0
AKR1CL1	340811	broad.mit.edu	37	10	5203690	5203690	+	RNA	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:5203690C>T	uc009xhz.2	-	3		c.502G>A								Homo sapiens aldo-keto reductase family 1, member C-like 1 (AKR1CL1), non-coding RNA.											cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						TTTTGGCAATCCTATGCACCT	0.418000														61			24		0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1257820	1257820	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:1257820C>T	uc002cks.3	+	14	3362	c.3114C>T	c.(3112-3114)ttC>ttT	p.F1038F	CACNA1H_uc002ckt.3_Silent_p.F1038F|CACNA1H_uc002cku.3_5'Flank|CACNA1H_uc010brj.3_5'Flank|CACNA1H_uc002ckv.3_5'Flank	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	1038					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CGGTCCACTTCGAGGAGGACT	0.632000														8			5		0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	G	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:20414343A>G	uc003zoe.2	-	4	760	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_uc011lne.1_Silent_p.S135S|MLLT3_uc011lnf.1_Silent_p.S164S|MLLT3_uc003zof.3_5'UTR	NM_004529	NP_004520	P42568	AF9_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (MLLT3), mRNA.	167	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S167S(38)|p.S166S(4)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532000			T	MLL	ALL									14			3		0	0	1	0	0
LILRB1	10859	broad.mit.edu	37	19	55143386	55143386	+	Splice_Site	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:55143386G>A	uc002qgj.3	+	6	699	c.359_splice	c.e6-1	p.G120_splice	LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.3_Splice_Site_p.G120_splice|LILRB1_uc002qgk.3_Splice_Site_p.G120_splice|LILRB1_uc002qgm.3_Splice_Site_p.G120_splice|LILRB1_uc010erq.3_Splice_Site_p.G120_splice|LILRB1_uc010err.3_Splice_Site	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA.	120	Ig-like C2-type 2.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		TCTCTCCTAGGAGCCTACATC	0.607000										HNSCC(37;0.09)				71			44		0	0	1	0	0
SLC39A6	25800	broad.mit.edu	37	18	33689595	33689595	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr18:33689595G>A	uc010dmy.3	-	9	2519	c.2229C>T	c.(2227-2229)tcC>tcT	p.S743S		NM_012319	NP_001092876	Q13433	S39A6_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 6 (SLC39A6), transcript variant 1, mRNA.	743						integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						GTTCAAATATGGAAATAAGTA	0.358000														59			41		0	0	1	0	0
MSLNL	401827	broad.mit.edu	37	16	822892	822892	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:822892C>T	uc002cjz.1	-	10	2293	c.2293G>A	c.(2293-2295)Gag>Aag	p.E765K		NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN	Homo sapiens mesothelin-like (MSLNL), mRNA.	414					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						GCCCTCACCTCTGTCTGGTTC	0.682000														20			10		0	0	1	0	0
KSR1	8844	broad.mit.edu	37	17	25910126	25910126	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:25910126G>A	uc010crg.3	+	4	1009	c.564G>A	c.(562-564)tcG>tcA	p.S188S	KSR1_uc002gzj.1_Non-coding_Transcript	NM_014238	NP_055053	Q8IVT5	KSR1_HUMAN	Homo sapiens kinase suppressor of ras 1 (KSR1), mRNA.	323					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		ACGTCTCCTCGATGAGGTGAG	0.522000														4			3		0	0	1	0	0
MBL2	4153	broad.mit.edu	37	10	54528095	54528095	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:54528095G>A	uc001jjt.3	-	3	614	c.549C>T	c.(547-549)ttC>ttT	p.F183F		NM_000242	NP_000233	P11226	MBL2_HUMAN	Homo sapiens mannose-binding lectin (protein C) 2, soluble (MBL2), mRNA.	183	C-type lectin.				acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding			breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						TGATGCCCAGGAAGGCTTCCT	0.512000														137			70		0	0	1	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76501369	76501369	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:76501369C>T	uc002fex.1	+	8	1752	c.1613C>T	c.(1612-1614)tCc>tTc	p.S538F	CNTNAP4_uc002feu.1_Missense_Mutation_p.S534F|CNTNAP4_uc002fev.1_Missense_Mutation_p.S399F|CNTNAP4_uc010chb.1_Missense_Mutation_p.S462F|CNTNAP4_uc002few.2_Missense_Mutation_p.S510F	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	535	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.S534Y(1)|p.S510Y(1)|p.S462Y(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CAGCAGGGGTCCCTTGGGAAC	0.453000														9			9		0	0	1	0	0
SRCIN1	80725	broad.mit.edu	37	17	36707615	36707615	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:36707615C>T	uc002hqd.3	-	14	2963	c.2738G>A	c.(2737-2739)cGa>cAa	p.R913Q	SRCIN1_uc002hqf.1_Missense_Mutation_p.R785Q|SRCIN1_uc002hqe.2_Missense_Mutation_p.R767Q	NM_025248	NP_079524	Q9C0H9	SRCN1_HUMAN	Homo sapiens SRC kinase signaling inhibitor 1 (SRCIN1), mRNA.	785					exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						CTCCCAGTCTCGCTCTGCAGC	0.622000														12			11		0	0	1	0	0
ZBTB7C	201501	broad.mit.edu	37	18	45567247	45567247	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr18:45567247C>T	uc010dnv.3	-	2	734	c.298G>A	c.(298-300)Gac>Aac	p.D100N	ZBTB7C_uc002ldb.3_Missense_Mutation_p.D78N|ZBTB7C_uc010dnu.3_Missense_Mutation_p.D87N|ZBTB7C_uc010dnw.3_Missense_Mutation_p.D78N|ZBTB7C_uc010dnx.1_Missense_Mutation_p.D78N|ZBTB7C_uc010dny.1_Missense_Mutation_p.D78N|ZBTB7C_uc010dnz.1_Missense_Mutation_p.D100N|ZBTB7C_uc010doi.1_Missense_Mutation_p.D78N|ZBTB7C_uc010doj.1_Missense_Mutation_p.D87N|ZBTB7C_uc010dok.1_Missense_Mutation_p.D127N|ZBTB7C_uc010dol.1_Missense_Mutation_p.D87N|ZBTB7C_uc010doa.1_Missense_Mutation_p.D100N|ZBTB7C_uc010dob.1_Missense_Mutation_p.D78N|ZBTB7C_uc010doc.1_Missense_Mutation_p.D87N|ZBTB7C_uc010dod.1_Missense_Mutation_p.D100N|ZBTB7C_uc010doe.1_Missense_Mutation_p.D78N|ZBTB7C_uc010dof.1_Missense_Mutation_p.D78N|ZBTB7C_uc010dog.1_Missense_Mutation_p.D78N|ZBTB7C_uc010doh.1_Missense_Mutation_p.D87N|ZBTB7C_uc010dom.1_Missense_Mutation_p.D87N|ZBTB7C_uc010don.1_Missense_Mutation_p.D86N|ZBTB7C_uc010dop.1_Missense_Mutation_p.D78N|ZBTB7C_uc010doq.1_Missense_Mutation_p.D87N|ZBTB7C_uc010dor.1_Missense_Mutation_p.D100N|ZBTB7C_uc010dos.1_Missense_Mutation_p.D78N|ZBTB7C_uc010dot.1_Missense_Mutation_p.D78N|ZBTB7C_uc010doo.1_Missense_Mutation_p.D78N|ZBTB7C_uc010dou.1_Missense_Mutation_p.D87N	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	Homo sapiens zinc finger and BTB domain containing 7C (ZBTB7C), mRNA.	78	BTB.					intracellular	nucleic acid binding|zinc ion binding	p.T100T(1)|p.D78N(1)		endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						TGGACAAAGTCGATCTCATAG	0.587000														44			16		0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62599136	62599136	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:62599136G>A	uc010ihh.3	+	4	1232	c.1059G>A	c.(1057-1059)gtG>gtA	p.V353V	LPHN3_uc003hcq.4_Silent_p.V353V|LPHN3_uc010ihg.1_Silent_p.V421V|LPHN3_uc003hcs.1_Silent_p.V182V	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	Homo sapiens latrophilin 3 (LPHN3), mRNA.	353	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						ATAGTTTGGTGGATGTACCCT	0.393000														19			17		0	0	1	0	0
FARS2	10667	broad.mit.edu	37	6	5771568	5771568	+	Missense_Mutation	SNP	T	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:5771568T>A	uc010jnv.1	+	6	1598	c.1262T>A	c.(1261-1263)aTg>aAg	p.M421K	FARS2_uc003mwr.2_Missense_Mutation_p.M421K	NM_006567	NP_006558	O95363	SYFM_HUMAN	Homo sapiens phenylalanyl-tRNA synthetase 2, mitochondrial (FARS2), nuclear gene encoding mitochondrial protein, mRNA.	421	FDX-ACB.				phenylalanyl-tRNA aminoacylation|tRNA processing	mitochondrial matrix|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	TACCGCCACATGGAACGGACT	0.587000														63			99		0	0	1	0	0
MOV10L1	54456	broad.mit.edu	37	22	50591503	50591503	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr22:50591503C>T	uc003bjj.3	+	21	3005	c.2922C>T	c.(2920-2922)tcC>tcT	p.S974S	MOV10L1_uc003bjk.4_Silent_p.S974S|MOV10L1_uc011arp.2_Silent_p.S954S|MOV10L1_uc003bjl.3_Silent_p.S101S|MOV10L1_uc003bjm.1_Silent_p.S17S	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA.	974					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|RNA binding|magnesium ion binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		ACTACCGGTCCCACGAGGCCC	0.602000														143			34		0	0	1	0	0
CBLB	868	broad.mit.edu	37	3	105404212	105404212	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:105404212G>A	uc003dwc.3	-	13	2475	c.2153C>T	c.(2152-2154)tCc>tTc	p.S718F	CBLB_uc011bhi.2_Missense_Mutation_p.S740F|CBLB_uc003dwd.2_Missense_Mutation_p.S718F|CBLB_uc003dwe.2_Missense_Mutation_p.S718F	NM_170662	NP_733762	Q13191	CBLB_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence b (CBLB), mRNA.	718	Pro-rich.				NLS-bearing substrate import into nucleus|cell surface receptor linked signaling pathway	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						TGAATTCAGGGAAACAGGGTG	0.403000			Mis S		AML									57			27		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141214153	141214153	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:141214153C>T	uc002tvj.1	-	61	10806	c.9834G>A	c.(9832-9834)atG>atA	p.M3278I		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3278					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.M3278I(2)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CATTATTTATCATGCAGAGAT	0.373000										TSP Lung(27;0.18)				48			34		0	0	1	0	0
DRD5	1816	broad.mit.edu	37	4	9784717	9784717	+	Missense_Mutation	SNP	A	G	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:9784717A>G	uc003gmb.4	+	0	1460	c.1064A>G	c.(1063-1065)aAc>aGc	p.N355S		NM_000798	NP_000789	P21918	DRD5_HUMAN	Homo sapiens dopamine receptor D5 (DRD5), mRNA.	355					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	TCCTCACTCAACCCCGTCATC	0.627000														51			28		0	0	1	0	0
COL27A1	85301	broad.mit.edu	37	9	117050993	117050993	+	Silent	SNP	T	G	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:117050993T>G	uc011lxl.2	+	42	4056	c.4056T>G	c.(4054-4056)ggT>ggG	p.G1352G	COL27A1_uc004bii.3_Non-coding_Transcript	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA.	1352	Collagen-like 12.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GCCCTGTGGGTGATCGAGGAG	0.622000														11			8		0	0	1	0	0
ZPBP	11055	broad.mit.edu	37	7	50070776	50070776	+	Silent	SNP	T	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:50070776T>A	uc003tou.3	-	4	688	c.618A>T	c.(616-618)tcA>tcT	p.S206S	ZPBP_uc010kyw.3_Silent_p.S205S	NM_007009	NP_008940	Q9BS86	ZPBP1_HUMAN	Homo sapiens zona pellucida binding protein (ZPBP), transcript variant 1, mRNA.	206					binding of sperm to zona pellucida	extracellular region		p.L205I(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					AAATTTCACATGAAAGGTCAA	0.353000														35			32		0	0	1	0	0
KNDC1	85442	broad.mit.edu	37	10	135012305	135012305	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:135012305G>A	uc001llz.1	+	13	2294	c.2293G>A	c.(2293-2295)Gcc>Acc	p.A765T	KNDC1_uc001lma.1_Missense_Mutation_p.A700T|KNDC1_uc001lmb.1_Missense_Mutation_p.A177T	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	Homo sapiens kinase non-catalytic C-lobe domain (KIND) containing 1 (KNDC1), transcript variant 1, mRNA.	765	Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		TCCACCCCAGGCCCCAGCAAA	0.736000														7			3		0	0	1	0	0
PROX2	283571	broad.mit.edu	37	14	75329637	75329637	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:75329637C>T	uc021rwo.1	-	0	901	c.901G>A	c.(901-903)Gga>Aga	p.G301R	PROX2_uc001xqp.2_Missense_Mutation_p.G301R|PROX2_uc001xqq.2_Intron	NM_001080408	NP_001229936	Q3B8N5	PROX2_HUMAN	Homo sapiens prospero homeobox 2 (PROX2), transcript variant 2, mRNA.	301					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		GATAAATTTCCTACTGGGACC	0.552000														73			22		0	0	1	0	0
LRP5	4041	broad.mit.edu	37	11	68197143	68197143	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:68197143C>T	uc001ont.3	+	16	3813	c.3738C>T	c.(3736-3738)ctC>ctT	p.L1246L	LRP5_uc009ysg.3_Silent_p.L656L	NM_002335	NP_002326	O75197	LRP5_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 5 (LRP5), mRNA.	1246	EGF-like 4.				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ACCTCGTGCTCCTGCAGAACC	0.602000														65			40		0	0	1	0	0
ACSM4	341392	broad.mit.edu	37	12	7459299	7459299	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:7459299C>T	uc001qsx.1	+	1	372	c.372C>T	c.(370-372)atC>atT	p.I124I		NM_001080454	NP_001073923	P0C7M7	ACSM4_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 4 (ACSM4), mRNA.	124					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						TGCCCAGAATCCCTGAGTGGT	0.512000														10			6		0	0	1	0	0
ABL2	27	broad.mit.edu	37	1	179078330	179078330	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:179078330G>A	uc001gmj.4	-	11	2359	c.2072C>T	c.(2071-2073)tCt>tTt	p.S691F	ABL2_uc010pnf.2_Intron|ABL2_uc010png.2_Intron|ABL2_uc010pnh.2_Missense_Mutation_p.S670F|ABL2_uc001gmg.4_Intron|ABL2_uc001gmi.4_Missense_Mutation_p.S676F|ABL2_uc010pne.2_Intron	NM_007314	NP_009298	P42684	ABL2_HUMAN	Homo sapiens v-abl Abelson murine leukemia viral oncogene homolog 2 (ABL2), transcript variant b, mRNA.	691					axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	AGAAGCAACAGATGAGAAGTT	0.517000			T	ETV6	AML									92			68		0	0	1	0	0
LOC441666	441666	broad.mit.edu	37	10	42831646	42831646	+	RNA	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:42831646G>A	uc010qey.2	-	2		c.2329C>T								Homo sapiens zinc finger protein 91 pseudogene (LOC441666), non-coding RNA.																		ACATTTACAGGGTTTCTCTTC	0.363000														10			3		0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53694281	53694281	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:53694281C>T	uc003dgv.4	+	4	908	c.745C>T	c.(745-747)Cga>Tga	p.R249*	CACNA1D_uc003dgu.4_Nonsense_Mutation_p.R249*|CACNA1D_uc003dgy.4_Nonsense_Mutation_p.R249*	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	249					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	GCGACCACTTCGACTAGTGTC	0.488000														29			11		0	0	1	0	0
BMP5	653	broad.mit.edu	37	6	55739516	55739516	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:55739516C>T	uc003pcq.3	-	0	860	c.148G>A	c.(148-150)Gaa>Aaa	p.E50K	BMP5_uc011dxf.2_Missense_Mutation_p.E50K	NM_021073	NP_066551	P22003	BMP5_HUMAN	Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA.	50					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	p.R49P(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			CTTTGTATTTCCCGTCTTTCG	0.453000														71			94		0	0	1	0	0
GAD1	2571	broad.mit.edu	37	2	171687691	171687691	+	Missense_Mutation	SNP	G	C	C			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:171687691G>C	uc002ugi.3	+	4	958	c.536G>C	c.(535-537)gGg>gCg	p.G179A	GAD1_uc002ugh.3_Missense_Mutation_p.G179A	NM_000817	NP_000808	Q99259	DCE1_HUMAN	Homo sapiens glutamate decarboxylase 1 (brain, 67kDa) (GAD1), transcript variant GAD67, mRNA.	179					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	TTGAAGTATGGGGTTCGCACA	0.537000														93			26		0	0	1	0	0
GPR18	2841	broad.mit.edu	37	13	99907947	99907947	+	Nonsense_Mutation	SNP	A	T	T	rs147490848	byFrequency	TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr13:99907947A>T	uc001voe.4	-	2	839	c.180T>A	c.(178-180)taT>taA	p.Y60*	UBAC2_uc001voa.4_Intron|UBAC2_uc010tiu.2_Intron|UBAC2_uc001vob.4_Intron|UBAC2_uc010tiv.2_Intron|UBAC2_uc001vod.3_Intron|UBAC2_uc001voc.3_Intron|UBAC2_uc010tiw.2_Intron|MIR548AN_uc021rly.1_Intron|GPR18_uc010afv.3_Nonsense_Mutation_p.Y60*|GPR18_uc021rlz.1_Nonsense_Mutation_p.Y60*	NM_005292	NP_005283	Q14330	GPR18_HUMAN	Homo sapiens G protein-coupled receptor 18 (GPR18), transcript variant 1, mRNA.	60						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(2)|lung(6)	10	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Glycine(DB00145)	CATTCATCATATAGATGGTTA	0.343000														51			16		0	0	1	0	0
GPR85	54329	broad.mit.edu	37	7	112724282	112724282	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:112724282G>A	uc010ljv.2	-	1	1012	c.495C>T	c.(493-495)ttC>ttT	p.F165F	GPR85_uc003vgp.1_Silent_p.F165F|GPR85_uc003vgq.2_Silent_p.F165F|GPR85_uc010ljw.1_Silent_p.F165F|GPR85_uc022akd.1_Silent_p.F165F	NM_001146266	NP_061843	P60893	GPR85_HUMAN	Homo sapiens G protein-coupled receptor 85 (GPR85), transcript variant 3, mRNA.	165						integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						CCTCCCTAATGAATGAGTAAG	0.507000														117			26		0	0	1	0	0
CDH7	1005	broad.mit.edu	37	18	63476962	63476962	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr18:63476962G>A	uc002lkb.3	+	2	659	c.233G>A	c.(232-234)gGa>gAa	p.G78E	CDH7_uc002ljz.3_Missense_Mutation_p.G78E|CDH7_uc002lka.3_Missense_Mutation_p.G78E	NM_004361	NP_387450	Q9ULB5	CADH7_HUMAN	Homo sapiens cadherin 7, type 2 (CDH7), transcript variant b, mRNA.	78	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				GTTGATAAAGGAGATGGTTCC	0.373000														79			27		0	0	1	0	0
CABIN1	23523	broad.mit.edu	37	22	24452754	24452754	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr22:24452754G>A	uc002zzi.1	+	9	1320	c.1193G>A	c.(1192-1194)cGa>cAa	p.R398Q	CABIN1_uc021wnc.1_Missense_Mutation_p.R348Q|CABIN1_uc002zzj.1_Missense_Mutation_p.R348Q|CABIN1_uc002zzl.2_Missense_Mutation_p.R398Q|CABIN1_uc010guk.1_Missense_Mutation_p.R353Q|CABIN1_uc002zzk.2_Missense_Mutation_p.R353Q	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	Homo sapiens calcineurin binding protein 1 (CABIN1), transcript variant 2, mRNA.	398					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GCCCGTGTCCGAAACACCAAG	0.448000														136			40		0	0	1	0	0
RAB27B	5874	broad.mit.edu	37	18	52546620	52546620	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr18:52546620G>A	uc002lfr.3	+	2	417	c.174G>A	c.(172-174)ccG>ccA	p.P58P		NM_004163	NP_004154	O00194	RB27B_HUMAN	Homo sapiens RAB27B, member RAS oncogene family (RAB27B), mRNA.	58					protein transport|small GTPase mediated signal transduction	Golgi apparatus|plasma membrane	GTP binding|GTPase activity	p.G57R(1)		large_intestine(3)|lung(3)|skin(1)	7				Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219)		CACAAGGACCGAATGGATCTT	0.403000														100			98		0	0	1	0	0
MAGED1	9500	broad.mit.edu	37	X	51644837	51644837	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:51644837C>T	uc004dpn.3	+	12	2506	c.2316C>T	c.(2314-2316)acC>acT	p.T772T	MAGED1_uc004dpm.3_Silent_p.T716T|MAGED1_uc004dpo.3_Silent_p.T716T	NM_001005333	NP_001005333	Q9Y5V3	MAGD1_HUMAN	Homo sapiens melanoma antigen family D, 1 (MAGED1), transcript variant 1, mRNA.	716					apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					AGCTGCTGACCTGGGATGAGG	0.557000										Multiple Myeloma(10;0.10)				8			21		0	0	1	0	0
TNFSF8	944	broad.mit.edu	37	9	117666537	117666537	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:117666537G>A	uc004bji.2	-	3	671	c.379C>T	c.(379-381)Cag>Tag	p.Q127*	TNFSF8_uc022bmi.1_Nonsense_Mutation_p.Q127*	NM_001244	NP_001235	P32971	TNFL8_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 8 (TNFSF8), transcript variant 1, mRNA.	127					cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						TTCCCATCCTGATATCTGACT	0.383000														72			39		0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132466781	132466781	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:132466781C>T	uc001ujn.3	+	4	1839	c.1687C>T	c.(1687-1689)Cca>Tca	p.P563S	EP400_uc021rgq.1_Missense_Mutation_p.P562S|EP400_uc001ujm.3_Missense_Mutation_p.P563S|EP400_uc001ujj.2_Missense_Mutation_p.P526S|EP400_uc001ujk.3_Missense_Mutation_p.P599S	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	599					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GAGGCTGCCCCCAGCCGGTGT	0.662000														28			21		0	0	1	0	0
PRRG2	5639	broad.mit.edu	37	19	50086495	50086495	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:50086495C>T	uc002pon.3	+	1	184	c.19C>T	c.(19-21)Ctg>Ttg	p.L7L	NOSIP_uc002pok.3_5'Flank|NOSIP_uc002pol.3_5'Flank|NOSIP_uc010yay.1_5'Flank|PRRG2_uc010yaz.1_5'UTR	NM_000951	NP_000942	O14669	TMG2_HUMAN	Homo sapiens proline rich Gla (G-carboxyglutamic acid) 2 (PRRG2), mRNA.	7						extracellular region|integral to plasma membrane	calcium ion binding			lung(1)|skin(1)|soft_tissue(1)	3		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0121)		CCACCCCTCTCTGCTGCTGCT	0.522000														16			15		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216496898	216496898	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:216496898G>A	uc001hku.1	-	7	1855	c.1468C>T	c.(1468-1470)Cat>Tat	p.H490Y	USH2A_uc001hkv.3_Missense_Mutation_p.H490Y	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	490	Laminin N-terminal.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TACTGCCCATGAAAATGAAAC	0.393000										HNSCC(13;0.011)				86			44		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179403374	179403374	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:179403374C>T	uc021vsy.1	-	302	91703	c.91478G>A	c.(91477-91479)gGa>gAa	p.G30493E	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G24188E|TTN_uc021vta.1_Missense_Mutation_p.G24121E|TTN_uc021vtb.1_Missense_Mutation_p.G23996E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	31420	Fibronectin type-III 122.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G23996E(1)|p.G24121E(1)|p.G30491E(1)|p.G24188E(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGCAAACCTCCTATTGTGAA	0.418000														102			73		0	0	1	0	0
LRRC8D	55144	broad.mit.edu	37	1	90400284	90400284	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:90400284C>T	uc021opq.1	+	0	1657	c.1657C>T	c.(1657-1659)Cct>Tct	p.P553S	LRRC8D_uc001dnm.3_Missense_Mutation_p.P553S|LRRC8D_uc001dnn.3_Missense_Mutation_p.P553S	NM_018103	NP_060573	Q7L1W4	LRC8D_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member D (LRRC8D), transcript variant 2, mRNA.	553						integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		GGCTGAAATTCCTGCCTGGGT	0.433000														55			25		0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152324262	152324262	+	Silent	SNP	T	C	C	rs144862791	by1000genomes	TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:152324262T>C	uc001ezw.4	-	2	6073	c.6000A>G	c.(5998-6000)caA>caG	p.Q2000Q	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	2000							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TATCTGCTGTTTGTCCATGAG	0.512000														346			6		0	0	1	0	0
ELAC2	60528	broad.mit.edu	37	17	12919117	12919117	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:12919117G>A	uc002gnz.4	-	3	517	c.400C>T	c.(400-402)Cca>Tca	p.P134S	ELAC2_uc010vvo.2_5'Flank|ELAC2_uc010vvp.2_Missense_Mutation_p.P115S|ELAC2_uc010vvq.2_Missense_Mutation_p.P134S|ELAC2_uc010vvr.2_Missense_Mutation_p.P134S	NM_018127	NP_060597	Q9BQ52	RNZ2_HUMAN	Homo sapiens elaC homolog 2 (E. coli) (ELAC2), transcript variant 1, mRNA.	134					tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						ACACACTTTGGAAGCCCGGTT	0.393000														69			36		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141735999	141735999	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:141735999G>A	uc003vwy.3	+	16	2044	c.1990G>A	c.(1990-1992)Gac>Aac	p.D664N		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	664	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTTTGCTTTGGACACCCCTGA	0.512000														25			13		0	0	1	0	0
ADCYAP1	116	broad.mit.edu	37	18	905487	905487	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr18:905487C>T	uc010dkg.3	+	1	219	c.100C>T	c.(100-102)Ccc>Tcc	p.P34S	ADCYAP1_uc010dkh.3_Missense_Mutation_p.P34S	NM_001099733	NP_001108	P18509	PACA_HUMAN	Homo sapiens adenylate cyclase activating polypeptide 1 (pituitary) (ADCYAP1), transcript variant 1, mRNA.	34					activation of adenylate cyclase activity|cell-cell signaling|female pregnancy|nerve growth factor receptor signaling pathway|regulation of G-protein coupled receptor protein signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|peptide hormone receptor binding			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						ACTCCGGTTCCCCGGGATCAG	0.632000														33			9		0	0	1	0	0
PPP6R2	9701	broad.mit.edu	37	22	50845224	50845224	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr22:50845224C>T	uc003blb.2	+	4	756	c.334C>T	c.(334-336)Cat>Tat	p.H112Y	PPP6R2_uc003blc.3_Missense_Mutation_p.H112Y|PPP6R2_uc003bky.2_Missense_Mutation_p.H112Y|PPP6R2_uc003bla.2_Missense_Mutation_p.H112Y|PPP6R2_uc003bkz.2_Missense_Mutation_p.H112Y	NM_001242898	NP_001229827	O75170	PP6R2_HUMAN	Homo sapiens protein phosphatase 6, regulatory subunit 2 (PPP6R2), transcript variant 1, mRNA.	112						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						CTTCTTGGACCATGAGCCGCC	0.532000														293			88		0	0	1	0	0
OR2T34	127068	broad.mit.edu	37	1	248737528	248737528	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:248737528C>T	uc001iep.1	-	0	531	c.531G>A	c.(529-531)agG>agA	p.R177R		NM_001001821	NP_001001821	Q8NGX1	O2T34_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 34 (OR2T34), mRNA.	177					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCAGGATTTTCCTAGACTGGC	0.527000														36			24		0	0	1	0	0
SLC9A2	6549	broad.mit.edu	37	2	103274237	103274237	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:103274237G>A	uc002tca.3	+	1	646	c.504G>A	c.(502-504)acG>acA	p.T168T		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	168						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						ACATTGGCACGATTTTCTGGT	0.488000														178			97		0	0	1	0	0
CDCP1	64866	broad.mit.edu	37	3	45152195	45152195	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:45152195G>A	uc003com.3	-	3	929	c.794C>T	c.(793-795)tCc>tTc	p.S265F	CDCP1_uc003con.3_Missense_Mutation_p.S265F	NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN	Homo sapiens CUB domain containing protein 1 (CDCP1), transcript variant 1, mRNA.	265						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		GTTGAGGAAGGAGACGCTGGC	0.572000														66			33		0	0	1	0	0
POLR1E	64425	broad.mit.edu	37	9	37498194	37498194	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:37498194C>T	uc003zzz.1	+	7	1333	c.1045C>T	c.(1045-1047)Cga>Tga	p.R349*	POLR1E_uc003zzy.1_Nonsense_Mutation_p.R287*|POLR1E_uc011lqk.1_Nonsense_Mutation_p.R216*	NM_022490	NP_071935	Q9GZS1	RPA49_HUMAN	Homo sapiens polymerase (RNA) I polypeptide E, 53kDa (POLR1E), mRNA.	349					rRNA transcription	cell junction|cytoplasm|nucleolus	DNA binding|DNA-directed RNA polymerase activity|protein binding			autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	12				GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229)		CATCAAATTTCGAGCTCATAG	0.398000														34			26		0	0	1	0	0
REG1B	5968	broad.mit.edu	37	2	79313631	79313631	+	Splice_Site	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:79313631C>T	uc002sny.2	-	4	296	c.184_splice	c.e4-1	p.L62_splice	REG1B_uc010ffv.1_Intron|REG1B_uc010ffw.3_3'UTR	NM_006507	NP_006498	P48304	REG1B_HUMAN	Homo sapiens regenerating islet-derived 1 beta (REG1B), mRNA.	62	C-type lectin.				cell proliferation	extracellular region	sugar binding			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						GGCAATAGAGCTGTTGGAGAA	0.498000														52			36		0	0	1	0	0
ORAOV1	220064	broad.mit.edu	37	11	69487993	69487993	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:69487993G>A	uc001opc.3	-	1	305	c.147C>T	c.(145-147)atC>atT	p.I49I	ORAOV1_uc010rqi.1_Silent_p.I49I|ORAOV1_uc009ysm.3_Non-coding_Transcript|ORAOV1_uc001opd.3_Intron|ORAOV1_uc001ope.1_Silent_p.I49I	NM_153451	NP_703152	Q8WV07	ORAV1_HUMAN	Homo sapiens oral cancer overexpressed 1 (ORAOV1), mRNA.	49										NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5	all_cancers(3;5.53e-114)|all_epithelial(3;1.34e-121)|Breast(3;9.28e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;6.15e-15)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;5.64e-57)|all cancers(3;5.98e-51)|BRCA - Breast invasive adenocarcinoma(2;5.49e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)			CCTCAGACCCGATTTTGGCTC	0.463000														51			31		0	0	1	0	0
CYP4A22	284541	broad.mit.edu	37	1	47611580	47611580	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:47611580C>T	uc001cqv.1	+	9	1316	c.1265C>T	c.(1264-1266)cCa>cTa	p.P422L	CYP4A22_uc009vyo.3_Missense_Mutation_p.P422L|CYP4A22_uc009vyp.3_Missense_Mutation_p.P324L	NM_001010969	NP_001010969	Q5TCH4	CP4AM_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 22 (CYP4A22), mRNA.	422						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CACCACAACCCAAAAGTGTGG	0.517000														173			116		0	0	1	0	0
SAA1	6288	broad.mit.edu	37	11	18288502	18288502	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:18288502C>T	uc021qem.1	+	2	169	c.68C>T	c.(67-69)tCg>tTg	p.S23L	SAA1_uc021qen.1_Missense_Mutation_p.S23L|SAA1_uc021qeo.1_Missense_Mutation_p.S23L	NM_001178006	NP_954630	P02735	SAA_HUMAN	Homo sapiens serum amyloid A1 (SAA1), transcript variant 3, mRNA.	23					acute-phase response|elevation of cytosolic calcium ion concentration|innate immune response|lymphocyte chemotaxis|macrophage chemotaxis|negative regulation of inflammatory response|neutrophil chemotaxis|platelet activation|positive regulation of cell adhesion|positive regulation of interleukin-1 secretion	high-density lipoprotein particle	G-protein-coupled receptor binding			endometrium(1)|large_intestine(3)|lung(2)|stomach(3)	9					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	AGCTTCTTTTCGTTCCTTGGC	0.498000														26			15		0	0	1	0	0
HCAR3	8843	broad.mit.edu	37	12	123200193	123200193	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:123200193G>A	uc001ucy.4	-	0	1247	c.1092C>T	c.(1090-1092)aaC>aaT	p.N364N	HCAR1_uc001ucw.1_Intron	NM_006018	NP_006009	P49019	HCAR3_HUMAN	Homo sapiens hydroxycarboxylic acid receptor 3 (HCAR3), mRNA.	364						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9					Mepenzolate(DB04843)|Niacin(DB00627)	TCTTGGAATGGTTATTTGAGG	0.527000														92			40		0	0	1	0	0
GIMAP4	55303	broad.mit.edu	37	7	150269665	150269665	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:150269665G>A	uc003whl.3	+	2	589	c.507G>A	c.(505-507)agG>agA	p.R169R	GIMAP4_uc011kuu.2_Silent_p.R30R|GIMAP4_uc011kuv.2_Silent_p.R183R	NM_018326	NP_060796	Q9NUV9	GIMA4_HUMAN	Homo sapiens GTPase, IMAP family member 4 (GIMAP4), mRNA.	169							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACTACTTAAGGGAAGCTCCAG	0.468000														51			71		0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157926718	157926718	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:157926718G>A	uc003wno.3	-	8	1328	c.1207C>T	c.(1207-1209)Ctg>Ttg	p.L403L	PTPRN2_uc003wnp.3_Silent_p.L386L|PTPRN2_uc003wnq.3_Silent_p.L403L|PTPRN2_uc003wnr.3_Silent_p.L365L|PTPRN2_uc011kwa.2_Silent_p.L426L	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	403						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TGGTCCTGCAGGAGGCCCCCG	0.587000														33			48		0	0	1	0	0
POTEF	728378	broad.mit.edu	37	2	130877615	130877615	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:130877615G>A	uc010fmh.2	-	2	874	c.474C>T	c.(472-474)atC>atT	p.I158I		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.	158						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						TGAGCATGACGATGAGATCCT	0.577000														22			48		0	0	1	0	0
ILDR2	387597	broad.mit.edu	37	1	166904703	166904703	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:166904703C>T	uc001gdx.2	-	5	771	c.715G>A	c.(715-717)Ggg>Agg	p.G239R		NM_199351	NP_955383	Q71H61	ILDR2_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 2 (ILDR2), mRNA.	239						integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						GCTGCTTTCCCTGCTTCATAC	0.582000														19			6		0	0	1	0	0
DDX4	54514	broad.mit.edu	37	5	55109502	55109502	+	Splice_Site	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:55109502G>A	uc003jqg.4	+	19	1715	c.1616_splice	c.e19-1	p.G539_splice	DDX4_uc010ivz.3_Splice_Site_p.G519_splice|DDX4_uc003jqh.4_Splice_Site_p.G505_splice|DDX4_uc003jqj.3_Splice_Site_p.G390_splice	NM_024415	NP_077726	Q9NQI0	DDX4_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 (DDX4), transcript variant 1, mRNA.	539	Helicase C-terminal.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				GTCTTGTAGGGGATGAAAGAA	0.308000														69			31		0	0	1	0	0
TRPV5	56302	broad.mit.edu	37	7	142609794	142609794	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:142609794C>T	uc003wby.1	-	12	1906	c.1642G>A	c.(1642-1644)Gac>Aac	p.D548N		NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	548					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	p.D548N(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					AAGTCCACGTCGTAGTTGGCA	0.507000														132			32		0	0	1	0	0
ESRRG	2104	broad.mit.edu	37	1	216692542	216692542	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:216692542C>T	uc001hkw.2	-	5	1257	c.1084G>A	c.(1084-1086)Gaa>Aaa	p.E362K	ESRRG_uc009xdp.1_Missense_Mutation_p.E339K|ESRRG_uc001hky.1_Missense_Mutation_p.E339K|ESRRG_uc001hkz.2_Missense_Mutation_p.E300K|ESRRG_uc010puc.2_Missense_Mutation_p.E339K|ESRRG_uc001hla.2_Missense_Mutation_p.E339K|ESRRG_uc001hlb.2_Missense_Mutation_p.E339K|ESRRG_uc010pud.2_Missense_Mutation_p.E177K|ESRRG_uc021pja.1_Missense_Mutation_p.E111K|ESRRG_uc001hlc.1_Missense_Mutation_p.E339K|ESRRG_uc001hld.1_Missense_Mutation_p.E339K|ESRRG_uc001hkx.2_Missense_Mutation_p.E374K|ESRRG_uc009xdo.2_Missense_Mutation_p.E339K|ESRRG_uc001hle.2_Missense_Mutation_p.E339K|ESRRG_uc021piz.1_Missense_Mutation_p.E339K	NM_001438	NP_001230435	P62508	ERR3_HUMAN	Homo sapiens estrogen-related receptor gamma (ESRRG), transcript variant 1, mRNA.	362					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	TCTTCTTTTTCCAGCTTCATG	0.358000														24			11		0	0	1	0	0
NYAP2	57624	broad.mit.edu	37	2	226273727	226273727	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:226273727G>A	uc002voe.2	+	1	306	c.131G>A	c.(130-132)cGa>cAa	p.R44Q	NYAP2_uc010fxa.1_Missense_Mutation_p.R39Q	NM_020864	NP_065915	Q9P242	K1486_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA.	44																	GATATTGCTCGAGAGAATGAT	0.408000														33			13		0	0	1	0	0
C8orf4	56892	broad.mit.edu	37	8	40011101	40011101	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:40011101G>A	uc003xnq.2	+	0	115	c.50G>A	c.(49-51)cGa>cAa	p.R17Q		NM_020130	NP_064515	Q9NR00	CH004_HUMAN	Homo sapiens chromosome 8 open reading frame 4 (C8orf4), mRNA.	17					apoptosis					breast(1)|large_intestine(1)|ovary(1)	3	Ovarian(28;0.0173)	all_cancers(7;5.34e-21)|all_epithelial(6;1.04e-14)|Lung NSC(58;9.35e-06)|all_lung(54;1.39e-05)|Hepatocellular(245;0.00745)|Breast(189;0.0334)|Colorectal(162;0.0815)|Myeloproliferative disorder(644;0.116)|Esophageal squamous(32;0.141)	LUSC - Lung squamous cell carcinoma(45;0.000149)	KIRC - Kidney renal clear cell carcinoma(67;0.0923)|Kidney(114;0.111)		ACGTCGCTACGAGTCAGCCCA	0.517000														19			29		0	0	1	0	0
TRIM58	25893	broad.mit.edu	37	1	248023992	248023992	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:248023992G>A	uc001ido.3	+	1	542	c.494G>A	c.(493-495)gGg>gAg	p.G165E		NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	Homo sapiens tripartite motif containing 58 (TRIM58), mRNA.	165						intracellular	zinc ion binding	p.V164L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GCCAACGTGGGGAAAAAGACT	0.473000														41			16		0	0	1	0	0
ENAM	10117	broad.mit.edu	37	4	71510503	71510503	+	Silent	SNP	A	G	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:71510503A>G	uc011caw.1	+	8	3641	c.3360A>G	c.(3358-3360)ccA>ccG	p.P1120P		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Homo sapiens enamelin (ENAM), mRNA.	1120					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			AACACAGTCCATTTGAATTCC	0.423000														48			27		0	0	1	0	0
ZSCAN20	7579	broad.mit.edu	37	1	33959884	33959884	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:33959884G>A	uc001bxj.4	+	7	2107	c.1940G>A	c.(1939-1941)gGa>gAa	p.G647E	ZSCAN20_uc009vui.3_Missense_Mutation_p.G646E	NM_145238	NP_660281	P17040	ZSC20_HUMAN	Homo sapiens zinc finger and SCAN domain containing 20 (ZSCAN20), mRNA.	647					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GGTTTGCCTGGAGCCTTATCA	0.428000														30			21		0	0	1	0	0
SMARCA1	6594	broad.mit.edu	37	X	128624170	128624170	+	Splice_Site	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:128624170C>T	uc011muk.1	-	15	1929	c.1816_splice	c.e15-1	p.D606_splice	SMARCA1_uc004eun.4_Splice_Site_p.D606_splice|SMARCA1_uc004eup.4_Splice_Site_p.D594_splice|SMARCA1_uc011mul.1_Splice_Site_p.D594_splice	NM_003069	NP_003060	P28370	SMCA1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 (SMARCA1), transcript variant 1, mRNA.	606	Helicase C-terminal.				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						GTGCTCGATCCTAGTAGAAAG	0.333000														10			14		0	0	1	0	0
ELTD1	64123	broad.mit.edu	37	1	79402010	79402010	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:79402010G>A	uc001diq.4	-	6	1003	c.847C>T	c.(847-849)Cca>Tca	p.P283S		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA.	283					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding	p.F282I(2)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TTTCTCTTTGGAAATATATTT	0.274000														84			39		0	0	1	0	0
FAM117B	150864	broad.mit.edu	37	2	203630464	203630464	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:203630464C>T	uc010zhx.2	+	7	1757	c.1747C>T	c.(1747-1749)Cca>Tca	p.P583S		NM_173511	NP_775782	Q6P1L5	F117B_HUMAN	Homo sapiens family with sequence similarity 117, member B (FAM117B), mRNA.	583										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						ACCACCAGAACCAATTGAGGA	0.512000														19			12		0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175292569	175292569	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:175292569G>A	uc001gkp.1	-	20	4082	c.4001C>T	c.(4000-4002)cCc>cTc	p.P1334L	TNR_uc009wwu.1_Missense_Mutation_p.P1334L	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	1334	Fibrinogen C-terminal.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TTCCACAAAGGGGATGGAGAA	0.552000														58			35		0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	130184942	130184942	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:130184942C>T	uc009zyl.1	-	1	709	c.381G>A	c.(379-381)tgG>tgA	p.W127*		NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	127						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CTTTTAGTTTCCAGTTAAGAG	0.522000														21			5		0	0	1	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	182129	182129	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:182129G>A	uc003jak.2	+	17	3557	c.3507G>A	c.(3505-3507)atG>atA	p.M1169I		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.	1169					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		AGTCACAAATGAGAGGGTCCA	0.597000														51			14		0	0	1	0	0
IRGC	56269	broad.mit.edu	37	19	44223386	44223386	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:44223386C>T	uc002oxh.3	+	1	823	c.676C>T	c.(676-678)Ccc>Tcc	p.P226S	IRGC_uc021uvh.1_Missense_Mutation_p.P226S	NM_019612	NP_062558	Q6NXR0	IIGP5_HUMAN	Homo sapiens immunity-related GTPase family, cinema (IRGC), mRNA.	226						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				CTACGACTTTCCCACGCTGGT	0.687000														14			5		0	0	1	0	0
LOC645752	645752	broad.mit.edu	37	15	78211645	78211645	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:78211645G>A	uc010bky.2	-	10	886	c.122C>T	c.(121-123)tCc>tTc	p.S41F						Homo sapiens golgi autoantigen, golgin subfamily a, 6 pseudogene (LOC645752), non-coding RNA.																		GGGCGCCAGGGATAGGGGCTC	0.522000														25			19		0	0	1	0	0
PRSS54	221191	broad.mit.edu	37	16	58325019	58325019	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:58325019G>A	uc002enf.3	-	3	502	c.107C>T	c.(106-108)tCc>tTc	p.S36F	PRSS54_uc002eng.3_Missense_Mutation_p.S36F|PRSS54_uc010vie.2_Intron	NM_001080492	NP_001073961	Q6PEW0	PRS54_HUMAN	Homo sapiens protease, serine, 54 (PRSS54), mRNA.	36					proteolysis	extracellular region	serine-type endopeptidase activity	p.S36S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GTAGAAAACGGAAGCTTTCTG	0.622000														28			9		0	0	1	0	0
ZBTB40	9923	broad.mit.edu	37	1	22848105	22848105	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:22848105C>T	uc001bft.2	+	15	3676	c.3165C>T	c.(3163-3165)ttC>ttT	p.F1055F	ZBTB40_uc001bfu.2_Silent_p.F1055F|ZBTB40_uc009vqi.1_Silent_p.F943F	NM_001083621	NP_055685	Q9NUA8	ZBT40_HUMAN	Homo sapiens zinc finger and BTB domain containing 40 (ZBTB40), transcript variant 1, mRNA.	1055					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		ACAAAACCTTCCCCAACACCA	0.542000														91			45		0	0	1	0	0
NMUR2	56923	broad.mit.edu	37	5	151784366	151784366	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:151784366G>A	uc003luv.2	-	0	475	c.309C>T	c.(307-309)gtC>gtT	p.V103V		NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	Homo sapiens neuromedin U receptor 2 (NMUR2), mRNA.	103					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			ACATCTCATAGACCTCCAGGG	0.582000														63			35		0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18049228	18049228	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:18049228G>T	uc021trm.1	+	28	6535	c.6316G>T	c.(6316-6318)Gag>Tag	p.E2106*	MYO15A_uc021trl.1_Nonsense_Mutation_p.E2104*	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	2106	MyTH4 1.|Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TGGTGCCCGGGAGAACATCTT	0.602000														23			19		4.26978e-12	4.31364e-12	1	1	0
SP7	121340	broad.mit.edu	37	12	53722955	53722955	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:53722955C>T	uc001sct.3	-	1	378	c.271G>A	c.(271-273)Gat>Aat	p.D91N	SP7_uc001scv.3_Missense_Mutation_p.D91N|SP7_uc001scu.3_Missense_Mutation_p.D73N	NM_152860	NP_690599	Q8TDD2	SP7_HUMAN	Homo sapiens Sp7 transcription factor (SP7), transcript variant 2, mRNA.	91					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						GGAGGGTAATCATTAGCATAG	0.577000														70			43		0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	118997664	118997664	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:118997664C>T	uc004bjn.3	+	6	2861	c.2480C>T	c.(2479-2481)tCc>tTc	p.S827F	PAPPA_uc011lxp.1_Missense_Mutation_p.S522F|PAPPA_uc011lxq.2_Intron	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	827					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						AAGAACATCTCCCTGGGTCCT	0.522000														23			9		0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28808689	28808689	+	Missense_Mutation	SNP	G	A	A	rs150817073		TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:28808689G>A	uc002rmb.2	+	25	1839	c.1795G>A	c.(1795-1797)Gaa>Aaa	p.E599K	PLB1_uc010ezj.2_Missense_Mutation_p.E588K|PLB1_uc002rmc.3_Missense_Mutation_p.E287K|PLB1_uc002rmd.1_Missense_Mutation_p.E109K	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA.	599	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					TACCCTCATCGAATTCAACAA	0.463000														48			21		0	0	1	0	0
HGFAC	3083	broad.mit.edu	37	4	3447795	3447795	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:3447795C>T	uc003ghc.3	+	9	1132	c.1129C>T	c.(1129-1131)Ccg>Tcg	p.P377S	HGFAC_uc010icw.3_Missense_Mutation_p.P384S	NM_001528	NP_001519	Q04756	HGFA_HUMAN	Homo sapiens HGF activator (HGFAC), mRNA.	377					proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CCAACTGTCACCGGATCTCCT	0.667000														9			8		0	0	1	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72462070	72462070	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:72462070G>A	uc001jrg.3	+	2	525	c.525G>A	c.(523-525)gcG>gcA	p.A175A	ADAMTS14_uc001jrh.3_Silent_p.A175A	NM_139155	NP_631894	Q8WXS8	ATS14_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 14 (ADAMTS14), transcript variant 1, mRNA.	175					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.A175A(2)		NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						TGGTTCAGGCGGGCCTCATCC	0.587000														70			38		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126411926	126411926	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:126411926C>T	uc003ifj.4	+	16	13949	c.13949C>T	c.(13948-13950)tCa>tTa	p.S4650L	FAT4_uc011cgp.2_Missense_Mutation_p.S2891L|FAT4_uc003ifi.1_Missense_Mutation_p.S2127L	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	4650					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCAAAATTTTCAATCCAGAGG	0.498000														20			13		0	0	1	0	0
CASR	846	broad.mit.edu	37	3	122001057	122001057	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:122001057C>T	uc003eew.4	+	5	2174	c.1736C>T	c.(1735-1737)cCt>cTt	p.P579L	CASR_uc003eev.4_Missense_Mutation_p.P569L	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	569					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	p.A579T(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GTGGAGTGTCCTGATGGGGAG	0.597000														96			46		0	0	1	0	0
APOL6	80830	broad.mit.edu	37	22	36055365	36055365	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr22:36055365C>T	uc003aoe.3	+	2	1048	c.754C>T	c.(754-756)Ctc>Ttc	p.L252F	APOL6_uc003aod.3_Non-coding_Transcript	NM_030641	NP_085144	Q9BWW8	APOL6_HUMAN	Homo sapiens apolipoprotein L, 6 (APOL6), mRNA.	252					lipoprotein metabolic process	cytoplasm|extracellular region	lipid binding|lipid transporter activity	p.L252L(1)		haematopoietic_and_lymphoid_tissue(1)|lung(4)	5						CTTGGCCACTCTCTCAAAGGA	0.532000														74			26		0	0	1	0	0
CCDC105	126402	broad.mit.edu	37	19	15124517	15124517	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:15124517G>A	uc002nae.2	+	1	703	c.604G>A	c.(604-606)Gag>Aag	p.E202K		NM_173482	NP_775753	Q8IYK2	CC105_HUMAN	Homo sapiens coiled-coil domain containing 105 (CCDC105), mRNA.	202					microtubule cytoskeleton organization	microtubule				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						GCTTACATGGGAGAAAGAGGA	0.473000														29			14		0	0	1	0	0
FAM107B	83641	broad.mit.edu	37	10	14564008	14564008	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:14564008G>A	uc001ina.1	-	3	898	c.664C>T	c.(664-666)Cct>Tct	p.P222S	FAM107B_uc010qbu.1_Non-coding_Transcript|FAM107B_uc001imx.1_Missense_Mutation_p.P47S|FAM107B_uc009xjg.1_Missense_Mutation_p.P47S|FAM107B_uc001imy.1_Missense_Mutation_p.P47S|FAM107B_uc001imz.1_Missense_Mutation_p.P47S	NM_031453	NP_113641	Q9H098	F107B_HUMAN	Homo sapiens family with sequence similarity 107, member B (FAM107B), mRNA.	47										breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TTGTTCTGAGGAGCAAGACCC	0.358000														29			14		0	0	1	0	0
ITGAL	3683	broad.mit.edu	37	16	30532830	30532830	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:30532830G>A	uc002dyi.4	+	30	3533	c.3357G>A	c.(3355-3357)cgG>cgA	p.R1119R	ITGAL_uc002dyj.4_Silent_p.R1035R|ITGAL_uc010vev.2_Silent_p.R353R	NM_002209	NP_002200	P20701	ITAL_HUMAN	Homo sapiens integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) (ITGAL), transcript variant 1, mRNA.	1119					T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	TCTTCAAACGGAACCTGAAGG	0.478000														42			9		0	0	1	0	0
PPRC1	23082	broad.mit.edu	37	10	103898686	103898686	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:103898686C>T	uc001kum.3	+	3	579	c.540C>T	c.(538-540)atC>atT	p.I180I	PPRC1_uc001kun.3_Silent_p.I60I|PPRC1_uc010qqj.2_Silent_p.I180I|PPRC1_uc009xxa.3_5'Flank	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator-related 1 (PPRC1), mRNA.	180					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GTGACCTCATCACCCCAGTTG	0.547000														31			24		0	0	1	0	0
MTCP1	4515	broad.mit.edu	37	X	154293955	154293955	+	Missense_Mutation	SNP	T	G	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:154293955T>G	uc004fmz.2	-	2	841	c.215A>C	c.(214-216)tAc>tCc	p.Y72S	MTCP1NB_uc004fmy.3_Intron	NM_001018025	NP_001018025	P56278	MTCP1_HUMAN	Homo sapiens mature T-cell proliferation 1 (MTCP1), nuclear gene encoding mitochondrial protein, mRNA.	72					cell proliferation					large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	5	all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CTCCTCCGGGTAGAGTTGCCA	0.483000			T	TRA@	T cell prolymphocytic leukemia									16			46		0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124395567	124395567	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:124395567C>T	uc001lgk.1	+	49	6328	c.6222C>T	c.(6220-6222)tcC>tcT	p.S2074S	DMBT1_uc001lgl.1_Silent_p.S2064S|DMBT1_uc001lgm.1_Silent_p.S1446S|DMBT1_uc021qaf.1_Silent_p.S2074S|DMBT1_uc021qag.1_Silent_p.S2064S|DMBT1_uc021qah.1_Silent_p.S1446S|DMBT1_uc009xzz.1_Silent_p.S2073S|DMBT1_uc010qtx.1_Silent_p.S794S|DMBT1_uc009yab.1_Silent_p.S777S|DMBT1_uc009yac.1_Silent_p.S368S	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	2074	CUB 2.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				ACCGCAGTTCCCCTCTCATTG	0.502000														39			14		0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24885848	24885848	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:24885848C>T	uc001wpf.4	+	8	5211	c.4893C>T	c.(4891-4893)ggC>ggT	p.G1631G		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	1631	Integrase catalytic.				DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GTGAGGAGGGCCATAAGCATG	0.597000														25			19		0	0	1	0	0
GMPS	8833	broad.mit.edu	37	3	155655416	155655416	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:155655416C>T	uc003faq.3	+	15	2352	c.2017C>T	c.(2017-2019)Cct>Tct	p.P673S	GMPS_uc011bom.2_Missense_Mutation_p.P574S	NM_003875	NP_003866	P49915	GUAA_HUMAN	Homo sapiens guanine monphosphate synthetase (GMPS), mRNA.	673					glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TAAGAAGATTCCTGGTATTTC	0.383000			T	MLL	AML									36			12		0	0	1	0	0
ENAM	10117	broad.mit.edu	37	4	71497599	71497599	+	Missense_Mutation	SNP	A	G	G	rs121908109		TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:71497599A>G	uc011caw.1	+	3	438	c.157A>G	c.(157-159)Aaa>Gaa	p.K53E		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Homo sapiens enamelin (ENAM), mRNA.	53					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			ATTTAGCAGTAAAAGTGAGGA	0.393000														133			76		0	0	1	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8656920	8656921	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:8656920_8656921GG>AA	uc002mkj.1	-	13	1928_1929	c.1654_1655CC>TT	c.(1654-1656)ccg>TTg	p.P552L	ADAMTS10_uc002mki.1_Missense_Mutation_p.R43C|ADAMTS10_uc002mkk.1_Missense_Mutation_p.P184L	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.	552	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						TGGAGTCCACGGCCCCCAGGCT	0.683000														19			13		0	0	1	0	0
CDR1	1038	broad.mit.edu	37	X	139866294	139866294	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:139866294C>T	uc004fbg.1	-	0	430	c.238G>A	c.(238-240)Gat>Aat	p.D80N	AK054921_uc004fbf.1_Non-coding_Transcript	NM_004065	NP_004056	P51861	CDR1_HUMAN	Homo sapiens cerebellar degeneration-related protein 1, 34kDa (CDR1), mRNA.	80	23 X 6 AA approximate repeats.									breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				TCCAGAAAATCCTTGTCTTCC	0.468000														16			22		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179457292	179457292	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:179457292G>A	uc021vsy.1	-	249	51961	c.51736C>T	c.(51736-51738)Cca>Tca	p.P17246S	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.P10941S|TTN_uc021vta.1_Missense_Mutation_p.P10874S|TTN_uc021vtb.1_Missense_Mutation_p.P10749S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	18173	Fibronectin type-III 25.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P17246L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTGGGAATGGCACTCCTTTG	0.408000														103			40		0	0	1	0	0
P4HB	5034	broad.mit.edu	37	17	79803495	79803495	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:79803495G>A	uc002kbn.1	-	8	1498	c.1301C>T	c.(1300-1302)gCc>gTc	p.A434V	P4HB_uc002kbl.1_Missense_Mutation_p.A111V|P4HB_uc002kbm.1_Missense_Mutation_p.A111V	NM_000918	NP_000909	P07237	PDIA1_HUMAN	Homo sapiens prolyl 4-hydroxylase, beta polypeptide (P4HB), mRNA.	434	Thioredoxin 2.				cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	ER-Golgi intermediate compartment|cell surface|endoplasmic reticulum lumen|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			CACTTTGACGGCCTCCACCTC	0.582000														21			17		0	0	1	0	0
NOBOX	135935	broad.mit.edu	37	7	144101747	144101747	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:144101747G>A	uc022aoj.1	-	1	112	c.112C>T	c.(112-114)Cct>Tct	p.P38S		NM_001080413	NP_001073882	O60393	NOBOX_HUMAN	Homo sapiens NOBOX oogenesis homeobox (NOBOX), mRNA.	38					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding	p.P38S(3)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					CCACACACAGGAAATTCAGGT	0.517000														111			85		0	0	1	0	0
CD6	923	broad.mit.edu	37	11	60786732	60786733	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:60786732_60786733CC>TT	uc001nqq.3	+	12	2174_2175	c.1949_1950CC>TT	c.(1948-1950)ccc>cTT	p.P650L	CD6_uc001nqs.3_Non-coding_Transcript|CD6_uc001nqr.3_Missense_Mutation_p.P583L|CD6_uc001nqt.3_Missense_Mutation_p.P574L	NM_006725	NP_006716	P30203	CD6_HUMAN	Homo sapiens CD6 molecule (CD6), transcript variant 1, mRNA.	650					cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						ACAGGGTCCCCCAGCCCTCAGC	0.639000														17			7		0	0	1	0	0
PRR12	57479	broad.mit.edu	37	19	50100062	50100062	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:50100062C>T	uc002poo.4	+	3	2470	c.2470C>T	c.(2470-2472)Ctt>Ttt	p.L824F		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	Homo sapiens proline rich 12 (PRR12), mRNA.	505							DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CGTCCACCTCCTTGAGCCAGC	0.731000														13			11		0	0	1	0	0
C19orf47	126526	broad.mit.edu	37	19	40832354	40832354	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:40832354G>A	uc002oni.4	-	6	591	c.590C>T	c.(589-591)cCt>cTt	p.P197L	C19orf47_uc002ong.3_Missense_Mutation_p.P56L|C19orf47_uc002onh.3_Missense_Mutation_p.P130L	NM_178830	NP_849152	Q8N9M1	CS047_HUMAN	Homo sapiens chromosome 19 open reading frame 47 (C19orf47), mRNA.	197										endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20			Lung(22;0.000636)			CCGCTTGGCAGGAACAGCCAG	0.627000														21			17		0	0	1	0	0
RYK	6259	broad.mit.edu	37	3	133878113	133878113	+	Silent	SNP	T	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:133878113T>A	uc003eqc.1	-	14	1775	c.1677A>T	c.(1675-1677)cgA>cgT	p.R559R	RYK_uc003eqd.1_Silent_p.R556R	NM_001005861	NP_001005861	P34925	RYK_HUMAN	Homo sapiens RYK receptor-like tyrosine kinase (RYK), transcript variant 1, mRNA.	557	Protein kinase.				Wnt receptor signaling pathway|corpus callosum development|positive regulation of MAPKKK cascade	cytoplasm|integral to plasma membrane|nucleus	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(1)|ovary(3)	4						GCTGGGCTATTCGGTAACCAT	0.453000														19			15		0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17483217	17483217	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:17483217G>A	uc001mnc.3	-	4	861	c.735C>T	c.(733-735)atC>atT	p.I245I	ABCC8_uc010rcy.1_Silent_p.I245I	NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	245					carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CTCGCAAGTCGATGGGCTTCT	0.607000														58			33		0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117768283	117768283	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:117768283C>T	uc001twn.2	-	1	1303	c.592G>A	c.(592-594)Ggc>Agc	p.G198S	NOS1_uc001twm.2_Missense_Mutation_p.G198S	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	198	Interaction with NOSIP (By similarity).|PIN (nNOS-inhibiting protein) binding.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.G198G(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TCCCCTCTGCCTTGGAGGCTG	0.642000														94			54		0	0	1	0	0
CSPG4	1464	broad.mit.edu	37	15	75982861	75982861	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:75982861C>T	uc002baw.3	-	2	638	c.545G>A	c.(544-546)cGg>cAg	p.R182Q		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	Homo sapiens chondroitin sulfate proteoglycan 4 (CSPG4), mRNA.	182	Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 1.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GGTCAGAGGCCGGAGGAGGCT	0.657000														64			4		0	0	1	0	0
OR2B3	442184	broad.mit.edu	37	6	29054186	29054186	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:29054186G>A	uc003nlx.3	-	0	905	c.840C>T	c.(838-840)atC>atT	p.I280I		NM_001005226	NP_001005226			Homo sapiens olfactory receptor, family 2, subfamily B, member 3 (OR2B3), mRNA.									p.G279*(1)		breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						TGGATGTGATGATTCCATAGA	0.413000														28			58		0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56459573	56459573	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:56459573C>T	uc002qmh.3	+	0	376	c.305C>T	c.(304-306)tCg>tTg	p.S102L	NLRP8_uc010etg.3_Missense_Mutation_p.S102L	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	102	DAPIN.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GATGTGACTTCGAACATCTTT	0.507000														42			20		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179598191	179598191	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:179598191G>A	uc021vsy.1	-	50	12322	c.12097C>T	c.(12097-12099)Ccc>Tcc	p.P4033S	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P694S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	4960							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTGTGGCGGGATCTCCTGCT	0.478000														105			76		0	0	1	0	0
ATG4A	115201	broad.mit.edu	37	X	107381055	107381055	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:107381055C>T	uc004enr.3	+	7	727	c.569C>T	c.(568-570)cCc>cTc	p.P190L	ATG4A_uc004ens.3_Missense_Mutation_p.P106L|ATG4A_uc011msl.2_Missense_Mutation_p.P106L|ATG4A_uc010npi.3_Non-coding_Transcript|ATG4A_uc004ent.3_Missense_Mutation_p.P190L	NM_052936	NP_443168	Q8WYN0	ATG4A_HUMAN	Homo sapiens ATG4 autophagy related 4 homolog A (S. cerevisiae) (ATG4A), transcript variant 1, mRNA.	190					autophagy|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity			endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)	11						CGTGTCCTTCCCTTGAGTGCT	0.468000														27			49		0	0	1	0	0
SHC3	53358	broad.mit.edu	37	9	91652971	91652971	+	Missense_Mutation	SNP	A	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:91652971A>T	uc004aqf.2	-	10	1900	c.1593T>A	c.(1591-1593)ttT>ttA	p.F531L		NM_016848	NP_058544	Q92529	SHC3_HUMAN	Homo sapiens SHC (Src homology 2 domain containing) transforming protein 3 (SHC3), mRNA.	531	SH2.				Ras protein signal transduction|central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway	cytosol	protein binding|signal transducer activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						CCGTGAGGACAAAGGAGCCCG	0.632000														23			41		0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46244064	46244064	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:46244064C>T	uc001ros.1	+	14	2158	c.2158C>T	c.(2158-2160)Cag>Tag	p.Q720*	ARID2_uc001ror.3_Nonsense_Mutation_p.Q720*|ARID2_uc009zkg.1_Nonsense_Mutation_p.Q176*|ARID2_uc009zkh.1_Nonsense_Mutation_p.Q347*|ARID2_uc001rou.1_Nonsense_Mutation_p.Q54*	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	720					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TACAGTTATCCAGAATTCCAT	0.448000			"""N, S, F"""		hepatocellular carcinoma									72			35		0	0	1	0	0
ZNF479	90827	broad.mit.edu	37	7	57188340	57188340	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:57188340C>T	uc010kzo.3	-	4	1053	c.782G>A	c.(781-783)aGa>aAa	p.R261K		NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	Homo sapiens zinc finger protein 479 (ZNF479), mRNA.	261					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			AGTATGAGTTCTCTTATGTCT	0.423000														33			16		0	0	1	0	0
PTPN3	5774	broad.mit.edu	37	9	112144689	112144689	+	Silent	SNP	G	A	A	rs150855452		TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:112144689G>A	uc004bed.2	-	23	2533	c.2421C>T	c.(2419-2421)gtC>gtT	p.V807V	PTPN3_uc004beb.2_Silent_p.V676V|PTPN3_uc004bec.2_Silent_p.V631V|PTPN3_uc010mtu.2_Non-coding_Transcript|PTPN3_uc011lwg.1_Silent_p.V762V|PTPN3_uc011lwh.1_Silent_p.V653V|PTPN3_uc011lwd.1_Silent_p.V275V|PTPN3_uc011lwe.1_Silent_p.V520V|PTPN3_uc011lwf.1_Silent_p.V475V	NM_002829	NP_001138843	P26045	PTN3_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 3 (PTPN3), transcript variant 1, mRNA.	807	Tyrosine-protein phosphatase.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						CAGGCCATGCGACGTACTGGA	0.577000														60			25		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179595517	179595517	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:179595517G>A	uc021vsy.1	-	57	14236	c.14011C>T	c.(14011-14013)Ctt>Ttt	p.L4671F	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.L1332F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5598	Ig-like 27.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTATGATAAGATCTATTCAA	0.313000														41			15		0	0	1	0	0
ICA1	3382	broad.mit.edu	37	7	8198186	8198186	+	Missense_Mutation	SNP	G	C	C	rs17847180		TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:8198186G>C	uc003sro.4	-	6	812	c.676C>G	c.(676-678)Ctc>Gtc	p.L226V	ICA1_uc010ktr.3_Missense_Mutation_p.L226V|ICA1_uc003srm.3_Missense_Mutation_p.L226V|ICA1_uc003srn.4_Missense_Mutation_p.L152V|ICA1_uc003srq.3_Missense_Mutation_p.L226V|ICA1_uc003srr.3_Missense_Mutation_p.L225V|ICA1_uc010kts.3_Non-coding_Transcript|ICA1_uc003srs.1_Missense_Mutation_p.L226V	NM_001136020	NP_071682	Q05084	ICA69_HUMAN	Homo sapiens islet cell autoantigen 1, 69kDa (ICA1), mRNA.	226	AH.				neurotransmitter transport	Golgi membrane|cell junction|cytosol|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		TGAGACAAGAGATTGCATCTG	0.373000														40			32		0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106974288	106974288	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:106974288C>T	uc001kyi.1	+	17	2691	c.2464C>T	c.(2464-2466)Cgg>Tgg	p.R822W	SORCS3_uc010qqz.1_Non-coding_Transcript	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	822						integral to membrane	neuropeptide receptor activity	p.P821S(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		AAAAGCCCCTCGGGGCCTCCA	0.572000														26			15		0	0	1	0	0
ACTN2	88	broad.mit.edu	37	1	236918340	236918340	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:236918340C>T	uc001hyf.2	+	16	2200	c.1996C>T	c.(1996-1998)Cag>Tag	p.Q666*	ACTN2_uc001hyg.2_Nonsense_Mutation_p.Q458*|ACTN2_uc009xgi.1_Nonsense_Mutation_p.Q666*|ACTN2_uc010pxu.1_Nonsense_Mutation_p.Q355*	NM_001103	NP_001094	P35609	ACTN2_HUMAN	Homo sapiens actinin, alpha 2 (ACTN2), mRNA.	666					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	Z disc|actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium	FATZ 1 binding|ZASP binding|actin binding|calcium ion binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin Z domain binding|titin binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GAGCTCCATCCAGATCACAGG	0.557000														73			33		0	0	1	0	0
MARCO	8685	broad.mit.edu	37	2	119729088	119729088	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:119729088C>T	uc002tln.1	+	3	570	c.438C>T	c.(436-438)atC>atT	p.I146I	MARCO_uc010yyf.1_Silent_p.I68I	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	146					cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						TGTTCAGAATCAAAGGTGAAC	0.582000														71			33		0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155215199	155215199	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:155215199G>A	uc021xge.1	-	13	2045	c.1768C>T	c.(1768-1770)Cgc>Tgc	p.R590C	PLCH1_uc021xgd.1_Missense_Mutation_p.R590C|PLCH1_uc021xgf.1_Missense_Mutation_p.R572C	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	590					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	p.Y589C(1)		NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TTCCTTCGGCGACCCAATCTG	0.463000														44			27		0	0	1	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169539844	169539844	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:169539844C>T	uc003fgb.3	+	0	135	c.135C>T	c.(133-135)ttC>ttT	p.F45F		NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 4 (LRRIQ4), mRNA.	45										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						TGGAGATCTTCACATTCACAG	0.398000														48			31		0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238245176	238245176	+	Splice_Site	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:238245176C>T	uc002vwl.2	-	40	8853	c.8568_splice	c.e40-1	p.V2856_splice	COL6A3_uc002vwo.2_Splice_Site_p.V2650_splice|COL6A3_uc010znj.1_Splice_Site_p.V2249_splice|COL6A3_uc002vwj.2_Splice_Site_p.V237_splice	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	2856	Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CGGAACATTTCTGTTAAGACA	0.388000														37			22		0	0	1	0	0
ALDH3A1	218	broad.mit.edu	37	17	19643780	19643780	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:19643780C>T	uc002gwk.3	-	4	1432	c.1169G>A	c.(1168-1170)gGg>gAg	p.G390E	ALDH3A1_uc010cqu.3_Missense_Mutation_p.G273E|ALDH3A1_uc010vzd.2_Missense_Mutation_p.G273E|ALDH3A1_uc002gwj.3_Missense_Mutation_p.G273E|ALDH3A1_uc010cqv.3_Missense_Mutation_p.G272E|ALDH3A1_uc002gwl.1_Missense_Mutation_p.G200E			P30838	AL3A1_HUMAN	Homo sapiens aldehyde dehydrogenase 3 family, member A1 (ALDH3A1), transcript variant 2, mRNA.	273					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	AGCATCTTCCCCGTAGAACTC	0.572000														68			22		0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57828183	57828183	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr20:57828183G>A	uc002yan.3	+	3	4178	c.4178G>A	c.(4177-4179)cGa>cAa	p.R1393Q		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	1393						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					ATGGACAAACGAACTGTGAAG	0.468000														83			40		0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123842262	123842262	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:123842262G>A	uc001lfv.3	+	3	607	c.247G>A	c.(247-249)Gac>Aac	p.D83N	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Missense_Mutation_p.D83N|TACC2_uc010qtv.2_Missense_Mutation_p.D83N	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	83						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GCCAAGGAAGGACCCACAGGG	0.632000														45			23		0	0	1	0	0
DACT1	51339	broad.mit.edu	37	14	59113798	59113798	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:59113798G>A	uc001xdw.3	+	3	2621	c.2457G>A	c.(2455-2457)aaG>aaA	p.K819K	DACT1_uc010trv.2_Silent_p.K538K|DACT1_uc001xdx.3_Silent_p.K782K|DACT1_uc010trw.2_Silent_p.K538K	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN	Homo sapiens dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis) (DACT1), transcript variant 1, mRNA.	819					Wnt receptor signaling pathway|multicellular organismal development	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						ATAACCTCAAGAAGAAGATCC	0.453000														62			36		0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21169793	21169793	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:21169793G>A	uc001iqi.3	-	4	807	c.410C>T	c.(409-411)tCa>tTa	p.S137L	NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	137				KHDAAKGFSD -> NMMLPRILS (in Ref. 2; AAF24858).	regulation of actin filament length		actin binding|structural constituent of muscle	p.F136F(1)		NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GGCATAATCTGAGAATCCTTT	0.403000														58			34		0	0	1	0	0
OR13C4	138804	broad.mit.edu	37	9	107288684	107288684	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:107288684C>T	uc011lvn.2	-	0	807	c.807G>A	c.(805-807)ggG>ggA	p.G269G		NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 4 (OR13C4), mRNA.	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						AGTTGTCTTTCCCAAGGAGGT	0.423000														9			17		0	0	1	0	0
FUCA1	2517	broad.mit.edu	37	1	24172303	24172303	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:24172303C>T	uc001bie.3	-	7	1386	c.1303G>A	c.(1303-1305)Gat>Aat	p.D435N		NM_000147	NP_000138	P04066	FUCO_HUMAN	Homo sapiens fucosidase, alpha-L- 1, tissue (FUCA1), mRNA.	435					fucose metabolic process|glycosaminoglycan catabolic process	lysosome	alpha-L-fucosidase activity|cation binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144)		TTATCTGGATCTGTGGACCAC	0.438000														66			27		0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48407424	48407424	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:48407424G>A	uc003toq.2	+	31	10746	c.10722G>A	c.(10720-10722)ctG>ctA	p.L3574L	ABCA13_uc010kys.1_Silent_p.L648L|ABCA13_uc003tos.1_Silent_p.L400L	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	3574					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTTTTCCACTGATAATGATGC	0.398000														1			2		0	0	1	0	0
SYT3	84258	broad.mit.edu	37	19	51129154	51129154	+	Splice_Site	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:51129154C>T	uc002pst.3	-	5	2036	c.1402_splice	c.e5+1	p.D468_splice	SYT3_uc002psv.3_Splice_Site_p.D468_splice|SYT3_uc010ycd.2_Splice_Site_p.D468_splice	NM_032298	NP_115674	Q9BQG1	SYT3_HUMAN	Homo sapiens synaptotagmin III (SYT3), transcript variant 1, mRNA.	468	C2 2.					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		ggACCCTCACCTGAGAAGCCA	0.647000														16			4		0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37027200	37027200	+	Silent	SNP	A	C	C			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:37027200A>C	uc004ddl.2	+	0	769	c.717A>C	c.(715-717)ccA>ccC	p.P239P		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	239										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TGGAGCCTCCAGAGACTGGAG	0.637000														48			3		0	0	1	0	0
CCDC73	493860	broad.mit.edu	37	11	32635800	32635800	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:32635800G>A	uc001mtv.3	-	15	2108	c.2064C>T	c.(2062-2064)gtC>gtT	p.V688V		NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN	Homo sapiens coiled-coil domain containing 73 (CCDC73), mRNA.	688										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TATCATTACAGACTTGCAGAA	0.303000														34			14		0	0	1	0	0
HOXB2	3212	broad.mit.edu	37	17	46620533	46620533	+	Missense_Mutation	SNP	G	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:46620533G>T	uc002inm.3	-	1	1088	c.968C>A	c.(967-969)tCc>tAc	p.S323Y		NM_002145	NP_002136	P14652	HXB2_HUMAN	Homo sapiens homeobox B2 (HOXB2), mRNA.	323					blood circulation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S323C(2)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						TAGGCTAGGGGAGAGGCCTCC	0.582000														54			26		5.52252e-06	5.54939e-06	1	1	0
ADORA2A	135	broad.mit.edu	37	22	24836677	24836677	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr22:24836677G>A	uc002zzx.3	+	4	1222	c.459G>A	c.(457-459)aaG>aaA	p.K153K	SPECC1L_uc021wne.1_Non-coding_Transcript|ADORA2A_uc002zzy.4_Silent_p.K153K|ADORA2A_uc011ajs.2_Silent_p.K14K|C22orf45_uc002zzz.2_Intron|ADORA2A_uc010guq.3_Silent_p.K153K|ADORA2A_uc010gup.3_Silent_p.K153K|ADORA2A_uc003aab.3_Silent_p.K153K|C22orf45_uc003aad.1_Intron	NM_000675	NP_000666	P29274	AA2AR_HUMAN	Homo sapiens adenosine A2a receptor (ADORA2A), mRNA.	153					apoptosis|blood coagulation|cAMP biosynthetic process|cellular defense response|inflammatory response|nerve growth factor receptor signaling pathway|phagocytosis|sensory perception	integral to plasma membrane|membrane fraction	enzyme binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|skin(1)	21	Colorectal(2;0.196)				Caffeine(DB00201)|Defibrotide(DB04932)|Pegademase bovine(DB00061)|Theophylline(DB00277)	AGGAGGGCAAGAACCACTCCC	0.572000														181			226		0	0	1	0	0
LIMCH1	22998	broad.mit.edu	37	4	41694357	41694357	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:41694357G>A	uc003gvz.4	+	30	4751	c.4334G>A	c.(4333-4335)cGa>cAa	p.R1445Q	LIMCH1_uc003gwe.4_Missense_Mutation_p.R958Q|LIMCH1_uc003gvu.4_Missense_Mutation_p.R1061Q|LIMCH1_uc003gvv.4_Missense_Mutation_p.R1035Q|LIMCH1_uc003gvw.4_Missense_Mutation_p.R1034Q|LIMCH1_uc003gvx.4_Missense_Mutation_p.R1047Q|LIMCH1_uc003gvy.4_Missense_Mutation_p.R863Q|LIMCH1_uc003gwa.4_Missense_Mutation_p.R875Q|LIMCH1_uc011byu.2_Missense_Mutation_p.R894Q|LIMCH1_uc003gwc.4_Missense_Mutation_p.R880Q|LIMCH1_uc003gwd.4_Missense_Mutation_p.R868Q|LIMCH1_uc011byv.2_Missense_Mutation_p.R811Q|LIMCH1_uc011byw.2_Missense_Mutation_p.R334Q|LIMCH1_uc010ifv.3_5'Flank	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	Homo sapiens LIM and calponin homology domains 1 (LIMCH1), transcript variant 1, mRNA.	1061					actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						GTTAGGATTCGAAATGGTCTC	0.428000														47			26		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140182171	140182171	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:140182171C>T	uc003lhf.2	+	0	1389	c.1389C>T	c.(1387-1389)ttC>ttT	p.F463F	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Silent_p.F463F	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	477	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACACGGTGTTCGTGAAGGAGA	0.662000														77			58		0	0	1	0	0
OR51G2	81282	broad.mit.edu	37	11	4936189	4936189	+	Silent	SNP	G	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:4936189G>T	uc001lzr.1	-	0	705	c.705C>A	c.(703-705)tcC>tcA	p.S235S		NM_001005238	NP_001005238	Q8NGK0	O51G2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily G, member 2 (OR51G2), mRNA.	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCTCAGCCCTGGAGGCGATGG	0.522000														26			22		1.55795e-14	1.57781e-14	1	1	0
CNTN2	6900	broad.mit.edu	37	1	205022330	205022330	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:205022330G>A	uc001hbr.3	+	1	286	c.17G>A	c.(16-18)aGg>aAg	p.R6K	CNTN2_uc001hbq.1_5'UTR	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	Homo sapiens contactin 2 (axonal) (CNTN2), mRNA.	6					axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			ACAGCCACCAGGAGGAAGCCA	0.597000														87			33		0	0	1	0	0
C1orf168	199920	broad.mit.edu	37	1	57258104	57258104	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:57258104C>T	uc001cym.4	-	1	788	c.382G>A	c.(382-384)Gaa>Aaa	p.E128K	C1orf168_uc009vzu.1_Non-coding_Transcript|C1orf168_uc009vzv.1_Missense_Mutation_p.E128K	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA.	128										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						ATTACTTTTTCCTTAGTGATT	0.428000														99			33		0	0	1	0	0
TTC40	54777	broad.mit.edu	37	10	134671205	134671205	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:134671205C>T	uc021qbc.1	-	38	5564	c.5463G>A	c.(5461-5463)gaG>gaA	p.E1821E		NM_001200049	NP_001186978	Q8IYW2	CJ092_HUMAN	Homo sapiens tetratricopeptide repeat domain 40 (TTC40), mRNA.	486										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						TCCCTTCTTCCTCAGCTACGG	0.537000														10			8		0	0	1	0	0
PLXNA1	5361	broad.mit.edu	37	3	126726729	126726730	+	Silent	DNP	CC	TT	TT			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:126726729_126726730CC>TT	uc003ejg.3	+	7	2085_2086	c.2085_2086CC>TT	c.(2083-2088)ttcctg>ttTTtg	p.695_696FL>FL		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	Homo sapiens plexin A1 (PLXNA1), mRNA.	695					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		ACTGCGCCTTCCTGGAGGGCCG	0.604000														37			7		0	0	1	0	0
PPP1R12A	4659	broad.mit.edu	37	12	80203735	80203735	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:80203735G>A	uc001syz.3	-	9	1562	c.1295C>T	c.(1294-1296)tCt>tTt	p.S432F	PPP1R12A_uc010suc.2_Missense_Mutation_p.S345F|PPP1R12A_uc001sza.3_Missense_Mutation_p.S432F|PPP1R12A_uc010sud.2_Missense_Mutation_p.S432F|PPP1R12A_uc001szb.3_Missense_Mutation_p.S432F|PPP1R12A_uc001szc.2_Missense_Mutation_p.S432F	NM_002480	NP_001137358	O14974	MYPT1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 12A (PPP1R12A), transcript variant 1, mRNA.	432						contractile fiber	protein binding|signal transducer activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						AGTTGCAGGAGACTCATCTTT	0.368000														12			5		0	0	1	0	0
CTSS	1520	broad.mit.edu	37	1	150727607	150727607	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:150727607G>A	uc001evn.3	-	3	530	c.269C>T	c.(268-270)tCt>tTt	p.S90F	CTSS_uc010pcj.2_Intron	NM_004079	NP_004070	P25774	CATS_HUMAN	Homo sapiens cathepsin S (CTSS), transcript variant 1, mRNA.	90					immune response|proteolysis	extracellular region|lysosome	cysteine-type endopeptidase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			ACTCATCAAAGACATCACTTC	0.408000														118			51		0	0	1	0	0
GCN1L1	10985	broad.mit.edu	37	12	120567141	120567141	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:120567141G>A	uc001txo.3	-	56	7842	c.7829C>T	c.(7828-7830)gCc>gTc	p.A2610V		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.	2610					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTCGCTGTAGGCCCTGACCAC	0.587000														97			61		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9043442	9043442	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:9043442C>T	uc002mkp.3	-	5	36291	c.36087G>A	c.(36085-36087)tgG>tgA	p.W12029*		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12031	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGTGGAGATCCAGGACCGAT	0.522000														5			4		0	0	1	0	0
ZNF334	55713	broad.mit.edu	37	20	45130893	45130893	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr20:45130893G>A	uc002xsa.3	-	3	1616	c.1154C>T	c.(1153-1155)tCg>tTg	p.S385L	ZNF334_uc002xsb.3_Missense_Mutation_p.S324L|ZNF334_uc002xsd.3_Missense_Mutation_p.S324L|ZNF334_uc002xsc.3_Missense_Mutation_p.S362L|ZNF334_uc010ghl.3_Missense_Mutation_p.S361L			Q9HCZ1	ZN334_HUMAN	Homo sapiens zinc finger protein 334 (ZNF334), transcript variant 2, mRNA.	362					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				AACAAGATACGATTTCTTGCT	0.453000														110			61		0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62041996	62041996	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:62041996C>T	uc002jds.1	-	8	1361	c.1284G>A	c.(1282-1284)gtG>gtA	p.V428V		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	428					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	AGATGATGACCACGAAGAAGA	0.577000														9			7		0	0	1	0	0
HTR3C	170572	broad.mit.edu	37	3	183777793	183777793	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:183777793G>A	uc003fmk.3	+	7	1137	c.1103G>A	c.(1102-1104)gGa>gAa	p.G368E		NM_130770	NP_570126	Q8WXA8	5HT3C_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3, family member C (HTR3C), mRNA.	368						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	p.G368K(2)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CCCCAGAAGGGAAATAAGGGC	0.642000														15			6		0	0	1	0	0
CDH20	28316	broad.mit.edu	37	18	59221534	59221534	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr18:59221534G>A	uc010dps.1	+	10	2164	c.2012G>A	c.(2011-2013)gGc>gAc	p.G671D	CDH20_uc002lif.2_Missense_Mutation_p.G665D	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	Homo sapiens cadherin 20, type 2 (CDH20), mRNA.	671					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G670G(1)		breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				GAGGGCGGCGGCGAGGAGGAC	0.652000														107			42		0	0	1	0	0
FAM105A	54491	broad.mit.edu	37	5	14602402	14602402	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:14602402C>T	uc003jfj.3	+	4	572	c.459C>T	c.(457-459)atC>atT	p.I153I		NM_019018	NP_061891	Q9NUU6	F105A_HUMAN	Homo sapiens family with sequence similarity 105, member A (FAM105A), mRNA.	153										large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					GCCAGGGCATCTCTTTTCCAT	0.403000														40			17		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179538395	179538395	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:179538395G>A	uc021vsy.1	-	146	31073	c.30848C>T	c.(30847-30849)cCt>cTt	p.P10283L	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P6944L|TTN_uc010fre.1_Missense_Mutation_p.P791L|TTN_uc010zfk.1_5'Flank|TTN_uc002una.1_Non-coding_Transcript|TTN_uc010frf.1_Intron	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	11210	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTAGGAACAGGAGTAGGTGC	0.353000														36			15		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158654964	158654964	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:158654964C>T	uc001fst.1	-	1	397	c.198G>A	c.(196-198)ggG>ggA	p.G66G		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	66					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.L65M(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGATCCACTtccccagatcat	0.453000														24			14		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9056341	9056341	+	Missense_Mutation	SNP	T	G	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:9056341T>G	uc002mkp.3	-	2	31309	c.31105A>C	c.(31105-31107)Agc>Cgc	p.S10369R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10371	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTAGTGCTGCTCTCTGTCCCA	0.483000														40			23		0	0	1	0	0
OR2D2	120776	broad.mit.edu	37	11	6913034	6913034	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:6913034C>T	uc010rau.2	-	0	698	c.698G>A	c.(697-699)gGg>gAg	p.G233E		NM_003700	NP_003691	Q9H210	OR2D2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily D, member 2 (OR2D2), mRNA.	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CTTGAGACTCCCCACAGTTGA	0.428000														41			29		0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12655875	12655875	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:12655875C>T	uc002gno.2	+	9	1569	c.1270C>T	c.(1270-1272)Cct>Tct	p.P424S	MYOCD_uc002gnn.2_Missense_Mutation_p.P424S|MYOCD_uc002gnp.1_Missense_Mutation_p.P328S|MYOCD_uc002gnq.2_Missense_Mutation_p.P143S	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	424					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		TGTCACTTTTCCTGTCACACC	0.572000														72			41		0	0	1	0	0
CYP3A7	1551	broad.mit.edu	37	7	99315192	99315192	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:99315192C>T	uc003uru.3	-	4	492	c.389G>A	c.(388-390)cGa>cAa	p.R130Q	ZNF498_uc003urn.3_Intron|CYP3A7_uc003urs.3_Intron|CYP3A7_uc010lgg.3_Intron	NM_000765	NP_000756	P24462	CP3A7_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 7 (CYP3A7), mRNA.	130					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					CAGCAATGATCGTATTCTCTT	0.398000														31			17		0	0	1	0	0
SCFD2	152579	broad.mit.edu	37	4	54218927	54218927	+	Missense_Mutation	SNP	A	C	C			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:54218927A>C	uc003gzu.3	-	1	979	c.845T>G	c.(844-846)gTt>gGt	p.V282G	SCFD2_uc010igm.3_Missense_Mutation_p.V282G	NM_152540	NP_689753	Q8WU76	SCFD2_HUMAN	Homo sapiens sec1 family domain containing 2 (SCFD2), mRNA.	282					protein transport|vesicle docking involved in exocytosis					breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			ATGATGTCCAACTGCTCCTGT	0.393000														21			23		0	0	1	0	0
C10orf68	79741	broad.mit.edu	37	10	33136833	33136833	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:33136833G>A	uc001iwm.1	+	16	1738	c.1502G>A	c.(1501-1503)aGg>aAg	p.R501K	C10orf68_uc001iwl.1_Missense_Mutation_p.R456K|C10orf68_uc001iwn.4_Missense_Mutation_p.R497K|C10orf68_uc010qei.1_Missense_Mutation_p.R473K|C10orf68_uc001iwo.4_Non-coding_Transcript	NM_024688	NP_078964	Q9H943	CJ068_HUMAN	Homo sapiens chromosome 10 open reading frame 68 (C10orf68), mRNA.	497										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						ACACAACTAAGGACTCACTAT	0.303000														46			34		0	0	1	0	0
RIC8A	60626	broad.mit.edu	37	11	213384	213384	+	Missense_Mutation	SNP	A	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:213384A>T	uc001lof.3	+	8	1784	c.1459A>T	c.(1459-1461)Atg>Ttg	p.M487L	RIC8A_uc001log.3_Missense_Mutation_p.M481L|RIC8A_uc001loh.3_Missense_Mutation_p.M474L	NM_021932	NP_068751	Q9NPQ8	RIC8A_HUMAN	Homo sapiens resistance to inhibitors of cholinesterase 8 homolog A (C. elegans) (RIC8A), mRNA.	481						cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		GCACGAGGCCATGAAGCTGGT	0.592000														5			5		0	0	1	0	0
IQSEC1	9922	broad.mit.edu	37	3	12950904	12950904	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:12950904G>A	uc003bxt.2	-	10	2498	c.2489C>T	c.(2488-2490)tCt>tTt	p.S830F	IQSEC1_uc003bxu.3_Missense_Mutation_p.S708F|IQSEC1_uc011auw.1_Missense_Mutation_p.S816F	NM_014869	NP_055684	Q6DN90	IQEC1_HUMAN	Homo sapiens IQ motif and Sec7 domain 1 (IQSEC1), transcript variant 2, mRNA.	830	PH.				regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCCGGGGACAGACGAGGTGAG	0.552000														59			26		0	0	1	0	0
PION	54103	broad.mit.edu	37	7	77010657	77010657	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:77010657G>A	uc003ugf.3	-	7	620	c.541C>T	c.(541-543)Cgt>Tgt	p.R181C	PION_uc003ugg.1_5'UTR	NM_017439	NP_059135	A4D1B5	GSAP_HUMAN	Homo sapiens pigeon homolog (Drosophila) (PION), mRNA.	181					beta-amyloid formation|regulation of proteolysis	trans-Golgi network	beta-amyloid binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						ACATGGATACGAAATTGTTCA	0.294000														28			16		0	0	1	0	0
AMICA1	120425	broad.mit.edu	37	11	118074365	118074365	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:118074365G>A	uc001psk.2	-	5	724	c.550C>T	c.(550-552)Cgt>Tgt	p.R184C	AMICA1_uc001psg.2_5'UTR|AMICA1_uc001psh.2_Missense_Mutation_p.R145C|AMICA1_uc009yzw.1_Non-coding_Transcript|AMICA1_uc001psi.2_Missense_Mutation_p.R174C|AMICA1_uc010rxw.1_Missense_Mutation_p.R145C|AMICA1_uc010rxx.1_Missense_Mutation_p.R184C|AMICA1_uc001psl.1_Missense_Mutation_p.R140C	NM_001098526	NP_001091996	Q86YT9	JAML1_HUMAN	Homo sapiens adhesion molecule, interacts with CXADR antigen 1 (AMICA1), transcript variant 1, mRNA.	184	Ig-like V-type 2.				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	cell junction|integral to membrane		p.R174G(1)|p.V183A(1)|p.R174C(1)		central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		TGGTAGTAACGAAATACAATC	0.502000														52			21		0	0	1	0	0
CHSY3	337876	broad.mit.edu	37	5	129244015	129244015	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:129244015C>T	uc003kvd.3	+	1	1048	c.1048C>T	c.(1048-1050)Cgc>Tgc	p.R350C		NM_175856	NP_787052	Q70JA7	CHSS3_HUMAN	Homo sapiens chondroitin sulfate synthase 3 (CHSY3), mRNA.	350						Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		AAGATGCGTTCGCCGTTTTGG	0.438000														37			22		0	0	1	0	0
ADH1B	125	broad.mit.edu	37	4	100235009	100235009	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:100235009G>A	uc003hus.4	-	5	881	c.797C>T	c.(796-798)tCg>tTg	p.S266L	ADH1B_uc003hut.4_Missense_Mutation_p.S226L|ADH1B_uc011ceh.2_Missense_Mutation_p.S111L|ADH1B_uc011cei.1_Missense_Mutation_p.S226L	NM_000668	NP_000659	P00325	ADH1B_HUMAN	Homo sapiens alcohol dehydrogenase 1B (class I), beta polypeptide (ADH1B), mRNA.	266					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding	p.S266L(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	GACTTCAAACGAAAAATCCAC	0.463000														118			61		0	0	1	0	0
APBB2	323	broad.mit.edu	37	4	40946898	40946898	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:40946898G>A	uc003gvn.3	-	6	1658	c.1028C>T	c.(1027-1029)cCc>cTc	p.P343L	APBB2_uc010ifu.3_5'UTR|APBB2_uc003gvl.3_Missense_Mutation_p.P342L|APBB2_uc003gvm.3_Missense_Mutation_p.P342L|APBB2_uc011byt.1_Missense_Mutation_p.P325L	NM_004307	NP_004298	Q92870	APBB2_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 2 (APBB2), transcript variant 1, mRNA.	342					cell cycle arrest|intracellular signal transduction|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						CTCTGGGGTGGGAGATGGCGT	0.498000														50			31		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216498906	216498906	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:216498906C>T	uc001hku.1	-	5	1271	c.884G>A	c.(883-885)aGa>aAa	p.R295K	USH2A_uc001hkv.3_Missense_Mutation_p.R295K	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	295	Laminin N-terminal.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGCATGCAATCTGAGAAGATC	0.512000										HNSCC(13;0.011)				27			18		0	0	1	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156925515	156925515	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:156925515G>A	uc001fqo.3	-	18	2668	c.1628C>T	c.(1627-1629)cCc>cTc	p.P543L	ARHGEF11_uc001fqn.3_Missense_Mutation_p.P583L|ARHGEF11_uc001fqp.1_Missense_Mutation_p.P72L	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 11 (ARHGEF11), transcript variant 1, mRNA.	543					G-protein coupled receptor protein signaling pathway|Rho protein signal transduction|actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of Rho protein signal transduction|regulation of cell growth|striated muscle contraction	Golgi apparatus|cytosol|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AGAGCTTTTGGGCTTCCCAAT	0.498000														125			72		0	0	1	0	0
WDR16	146845	broad.mit.edu	37	17	9532129	9532129	+	Missense_Mutation	SNP	T	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:9532129T>A	uc010coc.3	+	9	1425	c.1196T>A	c.(1195-1197)aTc>aAc	p.I399N	WDR16_uc002gly.3_Missense_Mutation_p.I389N|WDR16_uc002glz.3_Missense_Mutation_p.I321N			Q8N1V2	WDR16_HUMAN	Homo sapiens WD repeat domain 16 (WDR16), transcript variant 2, mRNA.	389						cytoplasm|intracellular membrane-bounded organelle	protein binding	p.I398L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						GGCAAAAGCATCATTTCAGGT	0.522000														66			32		0	0	1	0	0
BPIFB6	128859	broad.mit.edu	37	20	31625434	31625434	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr20:31625434C>T	uc010zuc.2	+	7	736	c.736C>T	c.(736-738)Cct>Tct	p.P246S	BPIFB6_uc010zud.2_Missense_Mutation_p.P185S	NM_174897	NP_777557	Q8NFQ5	BPIL3_HUMAN	Homo sapiens BPI fold containing family B, member 6 (BPIFB6), mRNA.	246						extracellular region	lipid binding										CCTCACGTTCCCTGAGGGTTA	0.577000														70			28		0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70986244	70986244	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:70986244C>T	uc001swb.4	-	4	974	c.944G>A	c.(943-945)gGa>gAa	p.G315E	PTPRB_uc010sto.2_Missense_Mutation_p.G315E|PTPRB_uc010stp.2_Missense_Mutation_p.G315E|PTPRB_uc001swc.4_Missense_Mutation_p.G533E|PTPRB_uc001swa.4_Missense_Mutation_p.G533E|PTPRB_uc001swd.4_Missense_Mutation_p.G532E|PTPRB_uc009zrr.2_Missense_Mutation_p.G412E|PTPRB_uc001swe.3_Missense_Mutation_p.G533E	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	315	Fibronectin type-III 4.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ATCCACATTTCCAGGAGGTCT	0.413000														11			8		0	0	1	0	0
ABLIM3	22885	broad.mit.edu	37	5	148620262	148620262	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:148620262C>T	uc003lpy.2	+	13	1479	c.1228C>T	c.(1228-1230)Cca>Tca	p.P410S	ABLIM3_uc003lpz.1_Missense_Mutation_p.P410S|ABLIM3_uc003lqa.1_Intron|ABLIM3_uc003lqb.3_Intron|ABLIM3_uc003lqc.1_Intron|ABLIM3_uc003lqd.1_Intron|ABLIM3_uc003lqe.1_Intron|ABLIM3_uc003lqf.3_Intron	NM_014945	NP_055760	O94929	ABLM3_HUMAN	Homo sapiens actin binding LIM protein family, member 3 (ABLIM3), mRNA.	410					axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGGAGCTCTCCATACCATAG	0.562000														68			33		0	0	1	0	0
ANKRD20A2	441430	broad.mit.edu	37	2	95481655	95481655	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:95481655C>T	uc010fhq.2	-	1	725	c.333G>A	c.(331-333)atG>atA	p.M111I	ANKRD20A2_uc010fhp.3_Non-coding_Transcript	NM_001012421	NP_001012421	Q5SQ80	A20A2_HUMAN	Homo sapiens ankyrin repeat domain 20 family, member A2 (ANKRD20A2), mRNA.	531										large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	4						TGTCATTTTTCATTGTACATA	0.299000														58			20		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41725439	41725439	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr21:41725439G>A	uc002yyq.1	-	4	1339	c.887C>T	c.(886-888)tCc>tTc	p.S296F	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	296	Ig-like C2-type 3.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GTATCTGTTGGACACTTCACA	0.532000														77			45		0	0	1	0	0
LAMB1	3912	broad.mit.edu	37	7	107595973	107595973	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:107595973C>T	uc003vev.2	-	18	3026	c.2865G>A	c.(2863-2865)agG>agA	p.R955R	LAMB1_uc003vew.2_Silent_p.R931R	NM_002291	NP_002282	P07942	LAMB1_HUMAN	Homo sapiens laminin, beta 1 (LAMB1), mRNA.	931	Laminin EGF-like 9.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGTAGCAGCTCCTGGCAAACT	0.532000														29			16		0	0	1	0	0
LIPK	643414	broad.mit.edu	37	10	90499756	90499756	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:90499756C>T	uc010qmv.2	+	6	820	c.820C>T	c.(820-822)Cgc>Tgc	p.R274C		NM_001080518	NP_001073987	Q5VXJ0	LIPK_HUMAN	Homo sapiens lipase, family member K (LIPK), mRNA.	274					lipid catabolic process	extracellular region	hydrolase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	12		Colorectal(252;0.0381)		Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05)		TTTGCAGAGTCGCTTGGATGT	0.388000														25			18		0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73066020	73066020	+	RNA	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:73066020G>A	uc004ebm.1	-	0		c.6569C>T								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		ACCAGGCCAGGAAAAAGGGCC	0.498000														17			29		0	0	1	0	0
EIF2AK1	27102	broad.mit.edu	37	7	6080834	6080834	+	Missense_Mutation	SNP	T	C	C			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:6080834T>C	uc003spp.3	-	8	954	c.808A>G	c.(808-810)Aaa>Gaa	p.K270E	EIF2AK1_uc003spq.3_Missense_Mutation_p.K269E|EIF2AK1_uc011jwm.1_Missense_Mutation_p.K146E|EIF2AK1_uc003spr.1_Missense_Mutation_p.K62E	NM_014413	NP_055228	Q9BQI3	E2AK1_HUMAN	Homo sapiens eukaryotic translation initiation factor 2-alpha kinase 1 (EIF2AK1), transcript variant 1, mRNA.	270	Protein kinase.				negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		TCATCATTTTTAACACCACAT	0.403000														29			24		0	0	1	0	0
KLK4	9622	broad.mit.edu	37	19	51410226	51410226	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:51410226G>A	uc002pua.1	-	4	729	c.729C>T	c.(727-729)ttC>ttT	p.F243F	KLK4_uc002pty.1_3'UTR|KLK4_uc002ptz.1_Non-coding_Transcript|KLK4_uc002pub.1_Silent_p.F148F|KLK4_uc002puc.1_Non-coding_Transcript	NM_004917	NP_004908	Q9Y5K2	KLK4_HUMAN	Homo sapiens kallikrein-related peptidase 4 (KLK4), mRNA.	243	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		TCCACTCAGTGAATTTGCAGA	0.527000														84			37		0	0	1	0	0
OR8A1	390275	broad.mit.edu	37	11	124440531	124440531	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:124440531C>T	uc010san.2	+	0	567	c.567C>T	c.(565-567)ctC>ctT	p.L189L		NM_001005194	NP_001005194	Q8NGG7	OR8A1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily A, member 1 (OR8A1), mRNA.	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L189L(2)		haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		GTGAGCACCTCATCAGTCACT	0.498000														48			30		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176760578	176760578	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:176760578G>A	uc001gkz.3	+	18	6144	c.4980G>A	c.(4978-4980)ctG>ctA	p.L1660L	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1660	Sushi 5.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.L1660M(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CCTCAGAGCTGAATTCTGTGG	0.443000														51			34		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82579012	82579012	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:82579012G>A	uc003uhx.2	-	5	11181	c.10892C>T	c.(10891-10893)tCa>tTa	p.S3631L	PCLO_uc003uhv.2_Missense_Mutation_p.S3631L|PCLO_uc010lec.3_Missense_Mutation_p.S596L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3562					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTTGCCTGGTGAAAGTGGTGA	0.468000														71			31		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38843419	38843419	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:38843419C>T	uc021yzh.1	+	52	7782	c.7673C>T	c.(7672-7674)tCc>tTc	p.S2558F	DNAH8_uc003ooe.2_Missense_Mutation_p.S2341F	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.									p.P2557H(1)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GGCGGTGTTTCCTGTGTCGAA	0.338000														67			13		0	0	1	0	0
OR8B12	219858	broad.mit.edu	37	11	124412741	124412741	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:124412741C>T	uc010sam.2	-	0	810	c.810G>A	c.(808-810)ggG>ggA	p.G270G		NM_001005195	NP_001005195	Q8NGG6	OR8BC_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 12 (OR8B12), mRNA.	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		AGGACACTTTCCCTTGCTCGA	0.433000														24			23		0	0	1	0	0
IRF6	3664	broad.mit.edu	37	1	209968671	209968671	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:209968671G>A	uc001hhq.2	-	4	776	c.472C>T	c.(472-474)Ccc>Tcc	p.P158S	IRF6_uc010psm.2_Missense_Mutation_p.P63S	NM_006147	NP_001193625	O14896	IRF6_HUMAN	Homo sapiens interferon regulatory factor 6 (IRF6), transcript variant 1, mRNA.	158					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		TCCTGGATGGGAACATGGTGC	0.507000										HNSCC(57;0.16)				76			48		0	0	1	0	0
CENPB	1059	broad.mit.edu	37	20	3766858	3766858	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr20:3766858G>A	uc002wjk.3	-	0	480	c.273C>T	c.(271-273)gcC>gcT	p.A91A	CDC25B_uc010zqk.2_5'Flank|CDC25B_uc010zql.2_5'Flank|CDC25B_uc010zqm.2_5'Flank	NM_001810	NP_001801	P07199	CENPB_HUMAN	Homo sapiens centromere protein B, 80kDa (CENPB), mRNA.	91	HTH CENPB-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|satellite DNA binding			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						CCGGCAGGCCGGCGGCGCGGA	0.652000														50			20		0	0	1	0	0
ATF1	466	broad.mit.edu	37	12	51213539	51213539	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:51213539C>T	uc001rww.4	+	6	1101	c.793C>T	c.(793-795)Ctt>Ttt	p.L265F	ATF1_uc010smu.2_Missense_Mutation_p.L130F	NM_005171	NP_005162	P18846	ATF1_HUMAN	Homo sapiens activating transcription factor 1 (ATF1), mRNA.	265					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway				EWSR1/ATF1(347)|FUS/ATF1(4)	breast(1)|large_intestine(1)|ovary(2)	4						TTTGAAGGATCTTTATTCCAA	0.284000			T	"""EWSR1, FUS"""	"""malignant melanoma of soft parts , angiomatoid fibrous histiocytoma """									23			10		0	0	1	0	0
OR9A2	135924	broad.mit.edu	37	7	142723778	142723778	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:142723778C>T	uc003wcc.1	-	0	442	c.442G>A	c.(442-444)Gga>Aga	p.G148R		NM_001001658	NP_001001658	Q8NGT5	OR9A2_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily A, member 2 (OR9A2), mRNA.	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					GAAAGAAATCCAAACACCCAT	0.428000														100			30		0	0	1	0	0
NLGN4X	57502	broad.mit.edu	37	X	5821662	5821662	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:5821662G>A	uc010ndi.3	-	5	1632	c.1168C>T	c.(1168-1170)Ccc>Tcc	p.P390S	NLGN4X_uc004crp.3_Missense_Mutation_p.P373S|NLGN4X_uc010ndh.3_Missense_Mutation_p.P353S|NLGN4X_uc004crq.3_Missense_Mutation_p.P353S|NLGN4X_uc004crr.3_Missense_Mutation_p.P353S|NLGN4X_uc010ndj.3_Missense_Mutation_p.P353S	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	Homo sapiens neuroligin 4, X-linked (NLGN4X), transcript variant 2, mRNA.	353					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						AGGATCTGGGGGTCGTCTGGG	0.582000														9			19		0	0	1	0	0
BRD3	8019	broad.mit.edu	37	9	136913436	136913436	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:136913436G>A	uc004cew.3	-	5	1043	c.855C>T	c.(853-855)ccC>ccT	p.P285P	BRD3_uc004cex.2_Silent_p.P285P	NM_007371	NP_031397	Q15059	BRD3_HUMAN	Homo sapiens bromodomain containing 3 (BRD3), mRNA.	285						nucleus	protein binding		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		GAGGCTTGATGGGGCGGCCAC	0.677000			T	C15orf55	lethal midline carcinoma of young people									31			16		0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104139016	104139016	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:104139016G>A	uc001tjw.3	+	56	6283	c.6097G>A	c.(6097-6099)Gaa>Aaa	p.E2033K	STAB2_uc009zug.3_Non-coding_Transcript	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	2033					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	p.C2032*(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GTGCCTCTGTGAAACGGGGTG	0.602000														26			7		0	0	1	0	0
MYOT	9499	broad.mit.edu	37	5	137219247	137219247	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:137219247G>A	uc011cye.2	+	6	1008	c.991G>A	c.(991-993)Gaa>Aaa	p.E331K	MYOT_uc003lbv.3_Missense_Mutation_p.E331K|MYOT_uc011cyg.2_Missense_Mutation_p.E147K|MYOT_uc011cyh.2_Missense_Mutation_p.E216K	NM_001135940	NP_001129412	Q9UBF9	MYOTI_HUMAN	Homo sapiens myotilin (MYOT), transcript variant 2, mRNA.	331	Ig-like C2-type 1.|Necessary for interaction with ACTA1.|Necessary for interaction with FLNC.				muscle contraction	actin cytoskeleton|sarcolemma|sarcomere	actin binding|structural constituent of muscle	p.G330R(1)		cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TAGAGCAGGAGAAGCCACCTT	0.423000														35			10		0	0	1	0	0
PZP	5858	broad.mit.edu	37	12	9345244	9345244	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:9345244G>A	uc001qvl.3	-	11	1375	c.1346C>T	c.(1345-1347)tCc>tTc	p.S449F	PZP_uc009zgl.3_Missense_Mutation_p.S318F	NM_002864	NP_002855			Homo sapiens pregnancy-zone protein (PZP), mRNA.											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						TCCACTTAAGGAGAAAACACG	0.498000														35			23		0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51871324	51871324	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr20:51871324C>T	uc002xwo.3	+	1	2214	c.1327C>T	c.(1327-1329)Ccc>Tcc	p.P443S	TSHZ2_uc021wex.1_Missense_Mutation_p.P440S	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	443					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			TTCTCTGGCTCCCAAGCCATC	0.478000														115			49		0	0	1	0	0
FAM170A	340069	broad.mit.edu	37	5	118968536	118968536	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:118968536C>T	uc003ksm.2	+	1	374	c.164C>T	c.(163-165)tCc>tTc	p.S55F	FAM170A_uc003ksl.2_Missense_Mutation_p.S55F|FAM170A_uc003ksn.3_Missense_Mutation_p.S55F|FAM170A_uc003kso.3_Intron	NM_182761	NP_877438	A1A519	F170A_HUMAN	Homo sapiens family with sequence similarity 170, member A (FAM170A), transcript variant 1, mRNA.	55						intracellular	zinc ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						ACTTCTACCTCCGAATACTGC	0.552000														22			52		0	0	1	0	0
USF1	7391	broad.mit.edu	37	1	161010101	161010101	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:161010101G>A	uc001fxi.3	-	9	929	c.734C>T	c.(733-735)tCc>tTc	p.S245F	F11R_uc010pjw.2_5'Flank|F11R_uc001fxf.4_5'Flank|F11R_uc010pjx.2_5'Flank|F11R_uc009wtw.3_5'Flank|F11R_uc001fxh.4_5'Flank|USF1_uc001fxj.3_Missense_Mutation_p.S186F	NM_007122	NP_996888	P22415	USF1_HUMAN	Homo sapiens upstream transcription factor 1 (USF1), transcript variant 1, mRNA.	245	Helix-loop-helix motif.				cellular response to insulin stimulus|glucose homeostasis|late viral mRNA transcription|lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter by glucose|response to UV|response to hypoxia	transcription factor complex	bHLH transcription factor binding|histone deacetylase binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			ACAAGCTTTGGATAGAATCCC	0.453000														54			28		0	0	1	0	0
ANKS1A	23294	broad.mit.edu	37	6	34937857	34937857	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:34937857C>T	uc003ojx.4	+	2	491	c.349C>T	c.(349-351)Ctg>Ttg	p.L117L	ANKS1A_uc011dst.2_5'UTR|ANKS1A_uc010jvp.2_5'UTR|ANKS1A_uc010jvq.1_Non-coding_Transcript|ANKS1A_uc010jvr.1_5'Flank	NM_015245	NP_056060	Q92625	ANS1A_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1A (ANKS1A), mRNA.	117						cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						CTGCTACCCTCTGCATTTGGC	0.522000														119			30		0	0	1	0	0
PRAMEF10	343071	broad.mit.edu	37	1	12955423	12955423	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:12955423C>T	uc001auo.3	-	1	329	c.256G>A	c.(256-258)Gat>Aat	p.D86N		NM_001039361	NP_001034450	O60809	PRA10_HUMAN	Homo sapiens PRAME family member 10 (PRAMEF10), mRNA.	86										NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACCAGTGTATCAAGTCCCCTC	0.607000														32			22		0	0	1	0	0
BC039000	0	broad.mit.edu	37	10	42965547	42965547	+	RNA	SNP	G	C	C			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:42965547G>C	uc001izx.3	-	1		c.606C>G								Homo sapiens cyclin Y-like 2, mRNA (cDNA clone IMAGE:4704933), with apparent retained intron.																		AAGTACTGAAGATGTGACCTC	0.423000														20			7		0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132534888	132534888	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:132534888C>T	uc001ujn.3	+	39	7373	c.7221C>T	c.(7219-7221)ctC>ctT	p.L2407L	EP400_uc021rgq.1_Silent_p.L2406L|EP400_uc001ujm.3_Silent_p.L2326L	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	2443	Myb-like.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		ACCGTCCTCTCCGTACGAGCC	0.517000														68			40		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	41306738	41306738	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr20:41306738G>A	uc002xkg.3	-	6	1105	c.921C>T	c.(919-921)atC>atT	p.I307I	PTPRT_uc010ggj.3_Silent_p.I307I	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	307	Fibronectin type-III 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CATTTGGCTTGATCCACAGGT	0.552000														11			8		0	0	1	0	0
MARCO	8685	broad.mit.edu	37	2	119732133	119732133	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:119732133G>A	uc002tln.1	+	5	737	c.605G>A	c.(604-606)gGa>gAa	p.G202E	MARCO_uc010yyf.1_Missense_Mutation_p.G124E	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	202	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	p.G202A(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						GGAGTCAAGGGAGAGGCGGGT	0.567000														18			7		0	0	1	0	0
GAP43	2596	broad.mit.edu	37	3	115394972	115394972	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:115394972G>A	uc003ebr.2	+	2	925	c.251G>A	c.(250-252)aGg>aAg	p.R84K	GAP43_uc003ebq.2_Missense_Mutation_p.R48K	NM_001130064	NP_001123536	P17677	NEUM_HUMAN	Homo sapiens growth associated protein 43 (GAP43), transcript variant 1, mRNA.	48					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding	cell junction|filopodium membrane|growth cone membrane|synapse	calmodulin binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		CACATAACAAGGAAAAAGCTC	0.458000														34			14		0	0	1	0	0
SLFN12L	100506736	broad.mit.edu	37	17	33806552	33806552	+	Missense_Mutation	SNP	T	C	C			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:33806552T>C	uc002hjn.3	-	2	1478	c.764A>G	c.(763-765)aAc>aGc	p.N255S	SLFN12L_uc021tuy.1_Missense_Mutation_p.N226S	NM_001195790	NP_001182719	Q6IEE8	SN12L_HUMAN	Homo sapiens schlafen family member 12-like (SLFN12L), mRNA.	258						integral to membrane	ATP binding			breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						AGTCGAGAAGTTTTTTATTTC	0.343000														32			17		0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2797695	2797695	+	Missense_Mutation	SNP	C	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:2797695C>A	uc009zdu.1	+	48	6429	c.6116C>A	c.(6115-6117)cCa>cAa	p.P2039Q	CACNA1C_uc001qkc.2_Missense_Mutation_p.P1975Q|CACNA1C_uc001qjz.2_Missense_Mutation_p.P1956Q|CACNA1C_uc001qkd.2_Missense_Mutation_p.P1975Q|CACNA1C_uc001qke.2_Missense_Mutation_p.P1945Q|CACNA1C_uc001qkf.2_Missense_Mutation_p.P1964Q|CACNA1C_uc009zdw.1_Missense_Mutation_p.P1997Q|CACNA1C_uc001qkg.2_Missense_Mutation_p.P1962Q|CACNA1C_uc001qkh.2_Missense_Mutation_p.P1964Q|CACNA1C_uc001qkl.2_Missense_Mutation_p.P2004Q|CACNA1C_uc001qkj.2_Missense_Mutation_p.P1991Q|CACNA1C_uc001qkk.2_Missense_Mutation_p.P1956Q|CACNA1C_uc001qkn.2_Missense_Mutation_p.P1956Q|CACNA1C_uc001qkm.2_Missense_Mutation_p.P2016Q|CACNA1C_uc001qko.2_Missense_Mutation_p.P1976Q|CACNA1C_uc001qkp.2_Missense_Mutation_p.P1956Q|CACNA1C_uc001qkq.2_Missense_Mutation_p.P1984Q|CACNA1C_uc001qku.2_Missense_Mutation_p.P1991Q|CACNA1C_uc001qkr.2_Missense_Mutation_p.P1973Q|CACNA1C_uc001qks.2_Missense_Mutation_p.P1956Q|CACNA1C_uc001qkt.2_Missense_Mutation_p.P1975Q|CACNA1C_uc009zdv.1_Missense_Mutation_p.P1953Q|CACNA1C_uc001qkb.2_Missense_Mutation_p.P1956Q|CACNA1C_uc001qki.1_Missense_Mutation_p.P1763Q|CACNA1C_uc010sea.1_Missense_Mutation_p.P647Q|AK093746_uc001qkx.1_Intron|CACNA1C_uc001qky.1_Missense_Mutation_p.P274Q	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	2039					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GCCACCCCACCAGCCACACCT	0.652000														54			30		3.54561e-26	3.60674e-26	1	1	0
CFHR1	3078	broad.mit.edu	37	1	196801025	196801025	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:196801025G>A	uc001gtn.3	+	5	1003	c.889G>A	c.(889-891)Gaa>Aaa	p.E297K	CFH_uc021pgt.1_Intron|CFHR1_uc001gtm.3_Missense_Mutation_p.E201K	NM_002113	NP_002104	Q03591	FHR1_HUMAN	Homo sapiens complement factor H-related 1 (CFHR1), mRNA.	297	Sushi 5.				complement activation	extracellular space				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						TGAATCAGCTGAATTTGTGTG	0.398000														27			51		0	0	1	0	0
GINS2	51659	broad.mit.edu	37	16	85712224	85712224	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:85712224C>T	uc002fja.3	-	3	438	c.354G>A	c.(352-354)aaG>aaA	p.K118K		NM_016095	NP_057179	Q9Y248	PSF2_HUMAN	Homo sapiens GINS complex subunit 2 (Psf2 homolog) (GINS2), mRNA.	118					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	nucleoplasm	protein binding			endometrium(2)|large_intestine(2)|lung(2)	6						CCCACATATCCTTGACCAGGG	0.542000														68			44		0	0	1	0	0
CYP2A13	1553	broad.mit.edu	37	19	41601683	41601683	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:41601683G>A	uc002opt.3	+	8	1331	c.1322G>A	c.(1321-1323)gGa>gAa	p.G441E		NM_000766	NP_000757	Q16696	CP2AD_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 13 (CYP2A13), mRNA.	441					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	TACTGTTTTGGAGAAGGCCTG	0.562000														53			27		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216348660	216348660	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:216348660G>A	uc001hku.1	-	20	4948	c.4561C>T	c.(4561-4563)Cgt>Tgt	p.R1521C	USH2A_uc001hkv.3_Missense_Mutation_p.R1521C	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	1521	Laminin G-like 1.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CCTATGAAACGGATTCCTTTC	0.433000										HNSCC(13;0.011)				23			10		0	0	1	0	0
SLC22A10	387775	broad.mit.edu	37	11	63069934	63069934	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:63069934C>T	uc009yor.3	+	6	1412	c.1204C>T	c.(1204-1206)Cat>Tat	p.H402Y	SLC22A10_uc010rmo.1_Intron|SLC22A10_uc001nwu.4_Intron|SLC22A10_uc010rmp.1_Intron	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN	Homo sapiens solute carrier family 22, member 10 (SLC22A10), mRNA.	402						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GACACTAAATCATATGGGCCG	0.463000														46			16		0	0	1	0	0
KRTAP10-6	386674	broad.mit.edu	37	21	46011861	46011861	+	Missense_Mutation	SNP	A	G	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr21:46011861A>G	uc002zfm.3	-	0	526	c.505T>C	c.(505-507)Tcc>Ccc	p.S169P	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198688	NP_941961	P60371	KR106_HUMAN	Homo sapiens keratin associated protein 10-6 (KRTAP10-6), mRNA.	169	29 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						CACGAAGAGGAAATCCCAGAG	0.642000														58			62		0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89400693	89400693	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:89400693C>T	uc010upo.1	+	11	5251	c.4877C>T	c.(4876-4878)cCc>cTc	p.P1626L	ACAN_uc010upp.1_Missense_Mutation_p.P1626L|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	1626					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			AGTGGTCTTCCCTCTGGATTT	0.522000														67			39		0	0	1	0	0
KRT34	3885	broad.mit.edu	37	17	39538448	39538448	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:39538448G>A	uc002hwm.3	-	0	189	c.177C>T	c.(175-177)tcC>tcT	p.S59S		NM_021013	NP_066293	O76011	KRT34_HUMAN	Homo sapiens keratin 34 (KRT34), mRNA.	59	Head.				epidermis development	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				AGGGCCGGGAGGAGCAGCTGG	0.622000														30			20		0	0	1	0	0
FOXP2	93986	broad.mit.edu	37	7	114299467	114299467	+	Missense_Mutation	SNP	T	G	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:114299467T>G	uc003vhb.3	+	11	1899	c.1525T>G	c.(1525-1527)Tat>Gat	p.Y509D	FOXP2_uc003vgu.3_Non-coding_Transcript|FOXP2_uc003vgz.3_Missense_Mutation_p.Y534D|FOXP2_uc003vha.3_Missense_Mutation_p.Y417D|FOXP2_uc011kmv.2_Missense_Mutation_p.Y508D|FOXP2_uc011kmu.2_Missense_Mutation_p.Y526D|FOXP2_uc010ljz.2_Intron|FOXP2_uc003vhe.1_Missense_Mutation_p.Y79D	NM_014491	NP_055306	O15409	FOXP2_HUMAN	Homo sapiens forkhead box P2 (FOXP2), transcript variant 1, mRNA.	509					camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						TCCATTTACTTATGCAACTCT	0.299000														112			24		0	0	1	0	0
PPP1R16B	26051	broad.mit.edu	37	20	37546995	37546995	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr20:37546995G>A	uc002xje.3	+	10	1579	c.1390G>A	c.(1390-1392)Gac>Aac	p.D464N	PPP1R16B_uc010ggc.3_Missense_Mutation_p.D422N	NM_015568	NP_056383	Q96T49	PP16B_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 16B (PPP1R16B), transcript variant 1, mRNA.	464					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding	p.A463A(1)		biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				TGGCGTGGCCGACGCCACCCC	0.642000														57			26		0	0	1	0	0
GOLGA2	2801	broad.mit.edu	37	9	131030734	131030734	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:131030734G>A	uc011maw.2	-	2	290	c.277C>T	c.(277-279)Cct>Tct	p.P93S	GOLGA2_uc010mxw.3_Intron|GOLGA2_uc004bul.1_5'UTR|GOLGA2_uc004bum.1_5'UTR	NM_004486	NP_004477	Q08379	GOGA2_HUMAN	Homo sapiens golgin A2 (GOLGA2), mRNA.	93						Golgi cisterna membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						CTGGCACCAGGGGAAGGGACA	0.562000														24			14		0	0	1	0	0
SH2B3	10019	broad.mit.edu	37	12	111856354	111856354	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:111856354C>T	uc001tsf.3	+	0	432	c.405C>T	c.(403-405)ttC>ttT	p.F135F	SH2B3_uc001tse.3_Silent_p.F135F|SH2B3_uc010syf.2_Silent_p.F135F	NM_005475	NP_005466	Q9UQQ2	SH2B3_HUMAN	Homo sapiens SH2B adaptor protein 3 (SH2B3), mRNA.	135					blood coagulation	cytosol	signal transducer activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	10						ccTGCTCCTTCCAGCACTTTC	0.806000														10			5		0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16860187	16860187	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:16860187C>T	uc002neu.4	+	5	1156	c.734C>T	c.(733-735)cCg>cTg	p.P245L	NWD1_uc002net.4_Missense_Mutation_p.P110L|NWD1_uc002nev.4_Missense_Mutation_p.P39L|NWD1_uc021uqg.1_Missense_Mutation_p.P110L	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	245							ATP binding	p.S245*(2)		NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CACCGCCTGCCGTGGAGCCGC	0.602000														31			21		0	0	1	0	0
OTOR	56914	broad.mit.edu	37	20	16729619	16729619	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr20:16729619G>T	uc002wpj.3	+	1	267	c.223G>T	c.(223-225)Gaa>Taa	p.E75*		NM_020157	NP_064542	Q9NRC9	OTOR_HUMAN	Homo sapiens otoraplin (OTOR), mRNA.	75	SH3.				sensory perception of sound	extracellular region				breast(1)|central_nervous_system(1)|endometrium(1)|liver(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10						GCTGGTAAAAGAAAATGGAGC	0.393000														20			9		0.00621372	0.00622276	1	1	0
DENND5A	23258	broad.mit.edu	37	11	9172244	9172244	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:9172244G>A	uc001mhl.3	-	13	2846	c.2589C>T	c.(2587-2589)tcC>tcT	p.S863S	DENND5A_uc001mhk.3_Silent_p.S206S|DENND5A_uc010rbw.2_Silent_p.S863S|DENND5A_uc010rbx.2_Non-coding_Transcript	NM_015213	NP_056028	Q6IQ26	DEN5A_HUMAN	Homo sapiens DENN/MADD domain containing 5A (DENND5A), transcript variant 1, mRNA.	863	RUN 1.									breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CCTGAATCAGGGAGATCCTCA	0.433000														53			16		0	0	1	0	0
SCTR	6344	broad.mit.edu	37	2	120219473	120219473	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:120219473G>A	uc002tma.3	-	6	966	c.740C>T	c.(739-741)tCc>tTc	p.S247F	SCTR_uc002tlz.3_Missense_Mutation_p.S69F	NM_002980	NP_002971	P47872	SCTR_HUMAN	Homo sapiens secretin receptor (SCTR), mRNA.	247					digestion|excretion	integral to plasma membrane	secretin receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	AGAGAAGAAGGAGATGGCGAG	0.537000														54			27		0	0	1	0	0
MCM2	4171	broad.mit.edu	37	3	127327810	127327810	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:127327810G>A	uc003ejp.3	+	7	1429	c.1372G>A	c.(1372-1374)Gat>Aat	p.D458N	MCM2_uc011bkm.2_Missense_Mutation_p.D328N|MCM2_uc010hsl.3_Non-coding_Transcript|MCM2_uc011bkn.2_Missense_Mutation_p.D342N	NM_004526	NP_004517	P49736	MCM2_HUMAN	Homo sapiens minichromosome maintenance complex component 2 (MCM2), mRNA.	458					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex|chromatin	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(2)|stomach(1)	6						GGAACTGACCGATGAAGATGT	0.547000														60			48		0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73962063	73962063	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:73962063G>A	uc004eby.3	-	2	2946	c.2329C>T	c.(2329-2331)Cat>Tat	p.H777Y		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	777					DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TTTGCCTCATGAAATTCAGAT	0.388000														19			34		0	0	1	0	0
HOXB2	3212	broad.mit.edu	37	17	46620638	46620638	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:46620638C>T	uc002inm.3	-	1	983	c.863G>A	c.(862-864)gGg>gAg	p.G288E		NM_002145	NP_002136	P14652	HXB2_HUMAN	Homo sapiens homeobox B2 (HOXB2), mRNA.	288					blood circulation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						TGGCAATGGCCCGGGCTCCAG	0.692000														8			4		0	0	1	0	0
SRL	6345	broad.mit.edu	37	16	4254582	4254582	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:4254582C>T	uc002cvz.4	-	1	128	c.115G>A	c.(115-117)Gag>Aag	p.E39K	SRL_uc002cvy.4_Non-coding_Transcript	NM_001098814	NP_001092284	Q86TD4	SRCA_HUMAN	Homo sapiens sarcalumenin (SRL), mRNA.	498	Acidic domain, probably binds calcium (By similarity).					sarcoplasmic reticulum lumen	GTP binding|GTPase activity	p.E39K(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						AGGGTCTTCTCGATGTGGGAG	0.572000														49			29		0	0	1	0	0
FAM86FP	653113	broad.mit.edu	37	12	8384425	8384425	+	RNA	SNP	G	A	A	rs7305109	by1000genomes	TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:8384425G>A	uc010sgk.2	-	4		c.1363C>T								Homo sapiens family with sequence similarity 86, member F, pseudogene (FAM86FP), non-coding RNA.																		GCTTCTTCTTGGAGTCTCAGG	0.592000														46			11		0	0	1	0	0
C1QTNF3	114899	broad.mit.edu	37	5	34028938	34028938	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:34028938C>T	uc003jio.3	-	3	762	c.621G>A	c.(619-621)ggG>ggA	p.G207G	C1QTNF3_uc003jim.3_Silent_p.G14G|C1QTNF3_uc003jin.3_Silent_p.G134G	NM_181435	NP_852100	Q9BXJ4	C1QT3_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 3 (C1QTNF3), transcript variant 2, mRNA.	134	C1q.					collagen				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|prostate(3)|stomach(1)|urinary_tract(1)	17	all_lung(31;0.0207)					TGAAGATAATCCCACTGTTCT	0.403000														29			12		0	0	1	0	0
DDC	1644	broad.mit.edu	37	7	50605624	50605624	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:50605624C>T	uc003tpg.4	-	3	570	c.369G>A	c.(367-369)ggG>ggA	p.G123G	DDC_uc022ade.1_Intron|DDC_uc003tpf.4_Silent_p.G123G|DDC_uc022adb.1_Silent_p.G85G|DDC_uc022adc.1_Silent_p.G123G|DDC_uc022add.1_Silent_p.G123G|DDC_uc022adf.1_Silent_p.G123G|LOC100129427_uc022adg.1_Intron	NM_001082971	NP_001076440	P20711	DDC_HUMAN	Homo sapiens dopa decarboxylase (aromatic L-amino acid decarboxylase) (DDC), transcript variant 1, mRNA.	123	2 X approximate tandem repeats.				cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding	p.G123W(1)|p.L122R(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	CCAGCATCTTCCCGAGCCAGT	0.562000														36			14		0	0	1	0	0
TRPC6	7225	broad.mit.edu	37	11	101323826	101323826	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:101323826C>T	uc001pgk.4	-	12	3081	c.2656G>A	c.(2656-2658)Gaa>Aaa	p.E886K	TRPC6_uc009ywy.3_Missense_Mutation_p.E770K	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 6 (TRPC6), mRNA.	886					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		TGCTTAATTTCCTTCAGTTCC	0.398000														37			20		0	0	1	0	0
SCUBE1	80274	broad.mit.edu	37	22	43716006	43716006	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr22:43716006C>T	uc003bdt.2	-	2	413	c.286G>A	c.(286-288)Ggg>Agg	p.G96R	SCUBE1_uc003bdu.2_Missense_Mutation_p.G96R	NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 1 (SCUBE1), mRNA.	96	EGF-like 2; calcium-binding (Potential).				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				CTGTAGTTCCCCGGGATGTTG	0.527000														84			39		0	0	1	0	0
ADAM21	8747	broad.mit.edu	37	14	70926307	70926307	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:70926307C>T	uc021rvq.1	+	0	2091	c.2091C>T	c.(2089-2091)ttC>ttT	p.F697F	ADAM21_uc001xmd.3_Silent_p.F697F	NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN	Homo sapiens ADAM metallopeptidase domain 21 (ADAM21), mRNA.	697					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TTTTGACTTTCCTGTTTACTG	0.418000														27			19		0	0	1	0	0
NCOA3	8202	broad.mit.edu	37	20	46264143	46264143	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr20:46264143C>T	uc002xtk.3	+	10	1451	c.1190C>T	c.(1189-1191)tCg>tTg	p.S397L	NCOA3_uc002xtl.3_Missense_Mutation_p.S397L|NCOA3_uc002xtn.3_Missense_Mutation_p.S397L|NCOA3_uc010ght.2_Missense_Mutation_p.S407L|NCOA3_uc002xtm.3_Missense_Mutation_p.S397L|NCOA3_uc010zyc.2_Missense_Mutation_p.S192L	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	Homo sapiens nuclear receptor coactivator 3 (NCOA3), transcript variant 1, mRNA.	397					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TGCAACAGTTCGGTAGGCGGC	0.502000														31			26		0	0	1	0	0
GZMK	3003	broad.mit.edu	37	5	54329647	54329647	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:54329647G>A	uc003jpl.1	+	4	732	c.688G>A	c.(688-690)Gga>Aga	p.G230R		NM_002104	NP_002095	P49863	GRAK_HUMAN	Homo sapiens granzyme K (granzyme 3; tryptase II) (GZMK), mRNA.	230	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)	15		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				TATAGTCTCTGGAGGTCATGA	0.488000														33			18		0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453137	+	Missense_Mutation	DNP	AC	TT	TT	rs121913377		TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:140453136_140453137AC>TT	uc003vwc.4	-	14	1859_1860	c.1798_1799GT>AA	c.(1798-1800)gtg>AAg	p.V600K		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600M(43)|p.V600D(40)|p.V600L(37)|p.V600_K601>E(30)|p.V600A(24)|p.V600G(22)|p.T599_V600insT(9)|p.A598_T599insV(7)|p.T599I(5)|p.V600Q(4)|p.T599_V600>IAL(4)|p.T599_R603>I(4)|p.T599_V600insTT(4)|p.T599_V600insDFGLAT(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAGA	0.366000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)|V600M(IGR1_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					46			76		0	0	1	0	0
MAGEB4	4115	broad.mit.edu	37	X	30260934	30260934	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:30260934G>A	uc004dcb.3	+	0	878	c.682G>A	c.(682-684)Ggg>Agg	p.G228R	MAGEB1_uc004dcc.3_5'Flank|MAGEB1_uc004dcd.3_5'Flank	NM_002367	NP_002358	O15481	MAGB4_HUMAN	Homo sapiens melanoma antigen family B, 4 (MAGEB4), mRNA.	228	MAGE.									breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						GAATATGCTGGGGATCTATGA	0.478000														7			15		0	0	1	0	0
OR2G2	81470	broad.mit.edu	37	1	247751934	247751934	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:247751934C>T	uc010pyy.2	+	0	273	c.273C>T	c.(271-273)ccC>ccT	p.P91P		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 2 (OR2G2), mRNA.	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TGTGGGAACCCATGAAAACTA	0.517000														48			29		0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	167021941	167021941	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:167021941C>T	uc003irh.2	+	20	3602	c.2955C>T	c.(2953-2955)ttC>ttT	p.F985F	TLL1_uc011cjn.2_Silent_p.F1008F|TLL1_uc011cjo.2_Silent_p.F809F	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	985	CUB 5.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TAATTCATTTCCACACTGATG	0.328000														38			38		0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103148906	103148906	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:103148906G>A	uc002tbz.4	+	11	2613	c.2156G>A	c.(2155-2157)gGa>gAa	p.G719E		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	719					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	p.G719E(2)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CTACACAGAGGAAGGAAGGCA	0.478000														23			11		0	0	1	0	0
POLR2A	5430	broad.mit.edu	37	17	7417270	7417270	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:7417270C>T	uc002ghf.4	+	28	6073	c.5687C>T	c.(5686-5688)tCc>tTc	p.S1896F		NM_000937	NP_000928	P24928	RPB1_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide A, 220kDa (POLR2A), mRNA.	1896	52 X 7 AA approximate tandem repeats of Y-[ST]-P-[STQ]-[ST]-P-[SRTEVKGN].				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|RNA-directed RNA polymerase activity|metal ion binding|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				cctacttattccccaacctct	0.557000														41			31		0	0	1	0	0
CCDC60	160777	broad.mit.edu	37	12	119954470	119954470	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:119954470G>A	uc001txe.3	+	7	1391	c.926G>A	c.(925-927)aGg>aAg	p.R309K	AF086288_uc001txf.3_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.	309										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		GATGCCCGGAGGACAGTCACA	0.473000														35			11		0	0	1	0	0
OR10AD1	121275	broad.mit.edu	37	12	48596291	48596291	+	Missense_Mutation	SNP	T	C	C			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:48596291T>C	uc001rrl.1	-	0	785	c.785A>G	c.(784-786)aAc>aGc	p.N262S		NM_001004134	NP_001004134	Q8NGE0	O10AD_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily AD, member 1 (OR10AD1), mRNA.	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|urinary_tract(1)	9						GCTGTGGGGGTTCATGTAAGA	0.493000														26			9		0	0	1	0	0
BEST3	144453	broad.mit.edu	37	12	70049344	70049344	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:70049344C>T	uc001svg.3	-	9	1577	c.1350G>A	c.(1348-1350)tgG>tgA	p.W450*	BEST3_uc001svd.2_Intron|BEST3_uc001svf.3_Nonsense_Mutation_p.W237*|BEST3_uc010stm.2_Nonsense_Mutation_p.W344*	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	Homo sapiens bestrophin 3 (BEST3), transcript variant 1, mRNA.	450						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			AGGATTTCTTCCAGGTGGGTG	0.587000														31			16		0	0	1	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18719980	18719980	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:18719980G>A	uc001rdt.3	+	27	3993	c.3877G>A	c.(3877-3879)Gaa>Aaa	p.E1293K	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.E1334K|PIK3C2G_uc010sic.2_Missense_Mutation_p.E1112K	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	1293	PX.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TGTATCACATGAAGTTACAAA	0.299000														31			21		0	0	1	0	0
SCIN	85477	broad.mit.edu	37	7	12666399	12666399	+	Missense_Mutation	SNP	T	G	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:12666399T>G	uc003ssn.4	+	7	1382	c.1172T>G	c.(1171-1173)gTg>gGg	p.V391G	SCIN_uc010ktt.3_Non-coding_Transcript|SCIN_uc003sso.4_Missense_Mutation_p.V144G	NM_001112706	NP_149119	Q9Y6U3	ADSV_HUMAN	Homo sapiens scinderin (SCIN), transcript variant 1, mRNA.	391	Ca(2+)-dependent actin binding.				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		CACAATATGGTGGATGATGGT	0.433000														9			6		0	0	1	0	0
ZKSCAN2	342357	broad.mit.edu	37	16	25266545	25266545	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:25266545G>A	uc002dod.4	-	1	975	c.568C>T	c.(568-570)Cgg>Tgg	p.R190W	ZKSCAN2_uc010vcl.2_5'UTR|ZKSCAN2_uc002doe.2_Missense_Mutation_p.R190W	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 2 (ZKSCAN2), mRNA.	190					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		GGTAAGGGCCGACGTTCTCGC	0.602000														46			25		0	0	1	0	0
NSUN2	54888	broad.mit.edu	37	5	6623341	6623341	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:6623341G>A	uc003jdu.3	-	4	904	c.523C>T	c.(523-525)Cgg>Tgg	p.R175W	NSUN2_uc003jdt.3_5'Flank|NSUN2_uc011cmk.2_Missense_Mutation_p.R140W|NSUN2_uc003jdv.3_5'UTR	NM_017755	NP_060225	Q08J23	NSUN2_HUMAN	Homo sapiens NOP2/Sun domain family, member 2 (NSUN2), transcript variant 1, mRNA.	175						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						TGATGAGGCCGCACGTTGAGG	0.408000														81			3		0	0	1	0	0
MOV10L1	54456	broad.mit.edu	37	22	50555621	50555621	+	Missense_Mutation	SNP	G	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr22:50555621G>T	uc003bjj.3	+	8	1378	c.1295G>T	c.(1294-1296)tGt>tTt	p.C432F	MOV10L1_uc003bjk.4_Missense_Mutation_p.C432F|MOV10L1_uc011arp.2_Missense_Mutation_p.C412F|MOV10L1_uc011arq.1_Missense_Mutation_p.C193F|MOV10L1_uc010hao.1_Non-coding_Transcript	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA.	432					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|RNA binding|magnesium ion binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		CTTTTGCTCTGTTTTTCCGAT	0.388000														79			21		0.00127121	0.00127368	1	1	0
ZNF441	126068	broad.mit.edu	37	19	11891225	11891225	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:11891225C>T	uc010dyj.3	+	3	780	c.586C>T	c.(586-588)Cgt>Tgt	p.R196C	ZNF441_uc002msn.4_Missense_Mutation_p.R152C	NM_152355	NP_689568	Q8N8Z8	ZN441_HUMAN	Homo sapiens zinc finger protein 441 (ZNF441), mRNA.	196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AGATGGACCTCGTATATGTAA	0.398000														57			23		0	0	1	0	0
CDK13	8621	broad.mit.edu	37	7	40102429	40102429	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:40102429C>T	uc003thh.4	+	7	2887	c.2605C>T	c.(2605-2607)Ccg>Tcg	p.P869S	CDK13_uc003thi.4_Missense_Mutation_p.P869S|CDK13_uc011kbf.2_Missense_Mutation_p.P255S|CDK13_uc003thj.3_5'UTR	NM_003718	NP_003709	Q14004	CDK13_HUMAN	Homo sapiens cyclin-dependent kinase 13 (CDK13), transcript variant 1, mRNA.	869	Protein kinase.				alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding	p.R868W(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						TTTTAGTCGGCCGTATACTAA	0.383000														247			104		0	0	1	0	0
DDOST	1650	broad.mit.edu	37	1	20981986	20981986	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:20981986G>A	uc001bdo.1	-	4	692	c.549C>T	c.(547-549)gcC>gcT	p.A183A	DDOST_uc010odd.1_5'UTR|DDOST_uc010ode.1_Silent_p.A146A	NM_005216	NP_005207	P39656	OST48_HUMAN	Homo sapiens dolichyl-diphosphooligosaccharide--protein glycosyltransferase (DDOST), mRNA.	183					T cell activation|innate immune response|post-translational protein modification|response to cytokine stimulus	integral to membrane|microsome|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|skin(1)	13		all_lung(284;2.98e-05)|Lung NSC(340;3.25e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000141)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00046)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CGATGGTTGGGGCCTTCAGCA	0.532000														44			27		0	0	1	0	0
DKK2	27123	broad.mit.edu	37	4	107847068	107847068	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:107847068C>T	uc003hyi.3	-	1	966	c.261G>A	c.(259-261)ggG>ggA	p.G87G	DKK2_uc010ilw.1_Non-coding_Transcript|DKK2_uc003hyj.1_Silent_p.G87G	NM_014421	NP_055236	Q9UBU2	DKK2_HUMAN	Homo sapiens dickkopf 2 homolog (Xenopus laevis) (DKK2), mRNA.	87	DKK-type Cys-1.				Wnt receptor signaling pathway|multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway	extracellular space				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		GGCAATACCTCCCAACTTCAC	0.502000														42			17		0	0	1	0	0
CHRM3	1131	broad.mit.edu	37	1	240071048	240071048	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:240071048G>A	uc021plc.1	+	0	297	c.297G>A	c.(295-297)ctG>ctA	p.L99L	CHRM3_uc001hyp.3_Silent_p.L99L	NM_000740	NP_000731	P20309	ACM3_HUMAN	Homo sapiens cholinergic receptor, muscarinic 3 (CHRM3), mRNA.	99					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	ACAAGCAGCTGAAGACGGTCA	0.468000														21			12		0	0	1	0	0
BLK	640	broad.mit.edu	37	8	11400788	11400788	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:11400788G>A	uc003wty.3	+	1	636	c.55G>A	c.(55-57)Gac>Aac	p.D19N		NM_001715	NP_001706	P51451	BLK_HUMAN	Homo sapiens B lymphoid tyrosine kinase (BLK), mRNA.	19					intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		CAAAGAGAAGGACAAGGGCCA	0.607000														10			15		0	0	1	0	0
TMEM43	79188	broad.mit.edu	37	3	14174406	14174406	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:14174406C>T	uc003byk.2	+	5	737	c.483C>T	c.(481-483)ttC>ttT	p.F161F	TMEM43_uc003byl.1_Silent_p.F41F	NM_024334	NP_077310	Q9BTV4	TMM43_HUMAN	Homo sapiens transmembrane protein 43 (TMEM43), mRNA.	161						Golgi apparatus|endoplasmic reticulum|integral to membrane|nuclear inner membrane				breast(1)|cervix(3)|endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(2)	19						GCAAAAACTTCGACCGAGAGA	0.547000														49			28		0	0	1	0	0
UBE2NL	389898	broad.mit.edu	37	X	142967226	142967226	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:142967226C>T	uc004fca.3	+	0	54	c.24C>T	c.(22-24)atC>atT	p.I8I		NM_001012989	NP_001013007	Q5JXB2	UE2NL_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2N-like (UBE2NL), mRNA.	8							acid-amino acid ligase activity			breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					CCCACAGGATCATCAAGGAAA	0.458000														13			34		0	0	1	0	0
GTF3C1	2975	broad.mit.edu	37	16	27475767	27475767	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:27475767G>A	uc002dov.2	-	33	5786	c.5746C>T	c.(5746-5748)Ctt>Ttt	p.L1916F	GTF3C1_uc002dou.3_Missense_Mutation_p.L1916F	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA.	1916						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GTGTCTTCAAGAGCTGGGGGT	0.652000														83			30		0	0	1	0	0
IL5RA	3568	broad.mit.edu	37	3	3143430	3143430	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:3143430C>T	uc011ask.2	-	5	957	c.313G>A	c.(313-315)Gac>Aac	p.D105N	IL5RA_uc010hbq.3_Missense_Mutation_p.D105N|IL5RA_uc010hbr.3_Missense_Mutation_p.D105N|IL5RA_uc010hbs.3_Missense_Mutation_p.D105N|IL5RA_uc011asl.2_Missense_Mutation_p.D105N|IL5RA_uc011asm.1_Missense_Mutation_p.D105N|IL5RA_uc010hbt.2_Missense_Mutation_p.D105N|IL5RA_uc011asn.1_Missense_Mutation_p.D105N|IL5RA_uc010hbu.2_Missense_Mutation_p.D105N	NM_000564	NP_783853	Q01344	IL5RA_HUMAN	Homo sapiens interleukin 5 receptor, alpha (IL5RA), transcript variant 1, mRNA.	105					cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity	p.D105N(2)		cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		AGTGAGTGGTCGTTCTGCAGG	0.473000														35			24		0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53779725	53779725	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:53779725C>T	uc003dgv.4	+	23	3244	c.3081C>T	c.(3079-3081)ttC>ttT	p.F1027F	CACNA1D_uc003dgu.4_Silent_p.F1047F|CACNA1D_uc003dgy.4_Silent_p.F1027F|CACNA1D_uc003dgw.4_Silent_p.F694F|CACNA1D_uc003dgx.1_Silent_p.F175F	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	1027					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	TCCTGCAGTTCATGTTTGCCT	0.537000														48			29		0	0	1	0	0
ALAS2	212	broad.mit.edu	37	X	55047556	55047556	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:55047556C>T	uc004dua.4	-	4	705	c.567G>A	c.(565-567)aaG>aaA	p.K189K	ALAS2_uc004dub.4_Silent_p.K176K|ALAS2_uc004dud.4_Silent_p.K152K	NM_000032	NP_000023	P22557	HEM0_HUMAN	Homo sapiens aminolevulinate, delta-, synthase 2 (ALAS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	189					cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	CGGACACATCCTTTGAGGCCA	0.517000														11			22		0	0	1	0	0
GRM4	2914	broad.mit.edu	37	6	34003913	34003913	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:34003913G>A	uc003oir.4	-	7	2337	c.1974C>T	c.(1972-1974)ttC>ttT	p.F658F	GRM4_uc011dsn.2_Silent_p.F611F|GRM4_uc010jvh.3_Silent_p.F658F|GRM4_uc010jvi.3_Silent_p.F350F|GRM4_uc003oio.3_Silent_p.F350F|GRM4_uc003oip.3_Non-coding_Transcript|GRM4_uc011dsl.2_Silent_p.F518F|GRM4_uc003oiq.3_Silent_p.F525F|GRM4_uc011dsm.2_Silent_p.F489F	NM_000841	NP_000832	Q14833	GRM4_HUMAN	Homo sapiens glutamate receptor, metabotropic 4 (GRM4), mRNA.	658					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.I657M(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	CTAGTCCCAGGAAGATTCGGC	0.607000														93			17		0	0	1	0	0
PES1	23481	broad.mit.edu	37	22	30985180	30985180	+	Silent	SNP	A	G	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr22:30985180A>G	uc003aij.2	-	1	209	c.102T>C	c.(100-102)ttT>ttC	p.F34F	PES1_uc003aik.2_Silent_p.F34F|PES1_uc003aio.1_5'UTR|PES1_uc003ain.1_5'UTR	NM_014303	NP_055118	O00541	PESC_HUMAN	Homo sapiens pescadillo homolog 1, containing BRCT domain (zebrafish) (PES1), transcript variant 1, mRNA.	34	Required for 28S ribosomal RNA processing.|Sufficient for nucleolar localization.				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	PeBoW complex|chromosome|nucleoplasm|preribosome, large subunit precursor	protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						ATATTCACCTAAAGTCAGCCA	0.517000														25			5		0	0	1	0	0
OR5L2	26338	broad.mit.edu	37	11	55595364	55595364	+	Missense_Mutation	SNP	A	C	C			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:55595364A>C	uc001nhy.1	+	0	670	c.670A>C	c.(670-672)Act>Cct	p.T224P		NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 2 (OR5L2), mRNA.	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T223A(1)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				AATTCTCACCACTATCCTGAA	0.488000										HNSCC(27;0.073)				105			43		0	0	1	0	0
ABCA3	21	broad.mit.edu	37	16	2349414	2349414	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:2349414G>A	uc002cpy.1	-	13	2443	c.1731C>T	c.(1729-1731)tcC>tcT	p.S577S	ABCA3_uc010bsk.1_Silent_p.S519S|ABCA3_uc010bsl.1_Silent_p.S577S	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA.	577	ABC transporter 1.				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				CTGTGAGCATGGAGAGGGTGG	0.662000														30			22		0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29628283	29628283	+	Silent	SNP	G	C	C			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr20:29628283G>C	uc010ztl.1	+	2	227	c.195G>C	c.(193-195)ggG>ggC	p.G65G	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Silent_p.G17G					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.G95G(4)|p.I64T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGAAGCAGGGGACATAGAAG	0.378000														138			5		0	0	1	0	0
SYT1	6857	broad.mit.edu	37	12	79679607	79679607	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:79679607C>T	uc001sys.3	+	5	878	c.207C>T	c.(205-207)gtC>gtT	p.V69V	SYT1_uc001syt.3_Silent_p.V69V|SYT1_uc001syu.3_Silent_p.V69V|SYT1_uc001syv.3_Silent_p.V69V	NM_001135805	NP_005630	P21579	SYT1_HUMAN	Homo sapiens synaptotagmin I (SYT1), transcript variant 2, mRNA.	69					detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						TAGTCGCAGTCCTTTTAGTCC	0.398000														44			23		0	0	1	0	0
RAB21	23011	broad.mit.edu	37	12	72175847	72175847	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:72175847C>T	uc001swt.3	+	4	680	c.428C>T	c.(427-429)tCc>tTc	p.S143F		NM_014999	NP_055814	Q9UL25	RAB21_HUMAN	Homo sapiens RAB21, member RAS oncogene family (RAB21), mRNA.	143					protein transport|small GTPase mediated signal transduction	Golgi membrane|cleavage furrow|cytoplasmic vesicle membrane|early endosome membrane|endoplasmic reticulum membrane	GDP binding|GTP binding|GTPase activity|protein binding			large_intestine(1)|lung(4)|prostate(1)	6						AGACATGTTTCCATTCAAGAA	0.323000														51			35		0	0	1	0	0
BVES	11149	broad.mit.edu	37	6	105577343	105577343	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:105577343G>A	uc003pqw.3	-	2	419	c.262C>T	c.(262-264)Cga>Tga	p.R88*	BVES_uc003pqx.3_Nonsense_Mutation_p.R88*|BVES_uc003pqy.3_Nonsense_Mutation_p.R88*	NM_147147	NP_671488	Q8NE79	POPD1_HUMAN	Homo sapiens blood vessel epicardial substance (BVES), transcript variant B, mRNA.	88					epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of Rac GTPase activity|regulation of cell shape|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity			NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				AAGGCACATCGGTAGAGAGTG	0.393000														48			5		0	0	1	0	0
AGAP11	119385	broad.mit.edu	37	10	88769382	88769382	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:88769382C>T	uc001kee.2	+	11	2577	c.1373C>T	c.(1372-1374)gCc>gTc	p.A458V	AGAP11_uc001kef.3_Intron	NM_133447	NP_597704	Q8TF27	AGA11_HUMAN	Homo sapiens ankyrin repeat and GTPase domain Arf GTPase activating protein 11 (AGAP11), mRNA.	458					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										CTGCTGCGGGCCACCGCTGAT	0.627000														98			67		0	0	1	0	0
CARD18	59082	broad.mit.edu	37	11	105009551	105009551	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:105009551C>T	uc021qpy.1	-	1	270	c.262G>A	c.(262-264)Ggt>Agt	p.G88S		NM_021571	NP_067546	P57730	CAR18_HUMAN	Homo sapiens caspase recruitment domain family, member 18 (CARD18), mRNA.	88	CARD.				inflammatory response|regulation of apoptosis	intracellular	cysteine-type endopeptidase inhibitor activity			central_nervous_system(1)|ovary(1)	2						TAGTGCAAACCCATCTTTGAG	0.403000														144			46		0	0	1	0	0
SEMA4A	64218	broad.mit.edu	37	1	156146328	156146328	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:156146328C>T	uc001fnl.3	+	14	2005	c.1826C>T	c.(1825-1827)tCc>tTc	p.S609F	SEMA4A_uc009wrq.3_Missense_Mutation_p.S609F|SEMA4A_uc001fnm.3_Missense_Mutation_p.S609F|SEMA4A_uc001fnn.3_Missense_Mutation_p.S477F|SEMA4A_uc001fno.3_Missense_Mutation_p.S609F	NM_001193301	NP_071762	Q9H3S1	SEM4A_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A (SEMA4A), transcript variant 3, mRNA.	609	Ig-like C2-type.				axon guidance	integral to membrane|plasma membrane	receptor activity			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					TACAATGGCTCCCTCTTGCTG	0.562000														40			16		0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7681727	7681727	+	Silent	SNP	C	T	T	rs138204204		TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:7681727C>T	uc002giu.1	+	33	5495	c.5481C>T	c.(5479-5481)gtC>gtT	p.V1827V		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	1827	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TCATTGTGGTCAACTGCTCTG	0.597000														23			10		0	0	1	0	0
NR3C2	4306	broad.mit.edu	37	4	149357343	149357343	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:149357343G>A	uc003ilj.4	-	1	1033	c.670C>T	c.(670-672)Cca>Tca	p.P224S	NR3C2_uc003ilk.4_Missense_Mutation_p.P224S|NR3C2_uc010iph.3_Non-coding_Transcript	NM_000901	NP_000892	P08235	MCR_HUMAN	Homo sapiens nuclear receptor subfamily 3, group C, member 2 (NR3C2), transcript variant 1, mRNA.	224	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	CTGTGCACTGGAAAACTGCCA	0.542000														11			13		0	0	1	0	0
SLC5A9	200010	broad.mit.edu	37	1	48698086	48698086	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:48698086G>A	uc001crn.2	+	8	1072	c.1020G>A	c.(1018-1020)aaG>aaA	p.K340K	SLC5A9_uc010oms.1_Non-coding_Transcript|SLC5A9_uc001cro.2_Silent_p.K315K|SLC5A9_uc010omt.1_Silent_p.K329K|SLC5A9_uc001crp.2_5'UTR|SLC5A9_uc010omu.1_5'UTR	NM_001135181	NP_001128653	Q2M3M2	SC5A9_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 9 (SLC5A9), transcript variant 1, mRNA.	315						integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						CTCATGCCAAGGGAGGCTCCG	0.577000														29			10		0	0	1	0	0
MESP2	145873	broad.mit.edu	37	15	90320308	90320308	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:90320308C>T	uc002bon.3	+	0	720	c.720C>T	c.(718-720)gtC>gtT	p.V240V	MESP2_uc010uqa.2_Intron	NM_001039958	NP_001035047	Q0VG99	MESP2_HUMAN	Homo sapiens mesoderm posterior 2 homolog (mouse) (MESP2), mRNA.	240					Notch signaling pathway	nucleus	DNA binding	p.G239R(1)		kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			GGAGGGGGGTCCACGACACGG	0.711000														5			6		0	0	1	0	0
ZIC4	84107	broad.mit.edu	37	3	147114198	147114198	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:147114198G>A	uc011bno.2	-	2	465	c.279C>T	c.(277-279)ttC>ttT	p.F93F	ZIC4_uc003ewc.2_5'UTR|ZIC4_uc021xff.1_Silent_p.F81F|ZIC4_uc003ewd.2_Silent_p.F43F|ZIC4_uc021xfg.1_Intron	NM_001168378	NP_115529	Q8N9L1	ZIC4_HUMAN	Homo sapiens Zic family member 4 (ZIC4), transcript variant 1, mRNA.	43	Poly-Ala.					nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GGAGGCCCGGGAACACCGAGG	0.672000														23			10		0	0	1	0	0
KIAA1211	57482	broad.mit.edu	37	4	57182451	57182451	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:57182451C>T	uc003hbk.2	+	7	3174	c.2783C>T	c.(2782-2784)tCt>tTt	p.S928F	KIAA1211_uc010iha.2_Missense_Mutation_p.S921F|KIAA1211_uc011bzz.1_Missense_Mutation_p.S838F|KIAA1211_uc003hbm.1_Missense_Mutation_p.S814F	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	Homo sapiens KIAA1211 (KIAA1211), mRNA.	928										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					AGCAGCCGCTCTGTTCCTGTG	0.647000														18			11		0	0	1	0	0
WT1	7490	broad.mit.edu	37	11	32413596	32413596	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:32413596G>A	uc001mtn.2	-	8	1544	c.1354C>T	c.(1354-1356)Cag>Tag	p.Q452*	WT1_uc001mtl.2_Nonsense_Mutation_p.Q240*|WT1_uc001mtm.2_Nonsense_Mutation_p.Q223*|WT1_uc001mto.2_Nonsense_Mutation_p.Q452*|WT1_uc001mtq.2_Nonsense_Mutation_p.Q435*|WT1_uc009yjs.2_Non-coding_Transcript	NM_024426	NP_077744	P19544	WT1_HUMAN	Homo sapiens Wilms tumor 1 (WT1), transcript variant D, mRNA.	384					RNA splicing|adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric S-shaped body morphogenesis|metanephric epithelium development|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.V380_S410del(1)	EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			GTTTTACACTGGAATGGTTTC	0.512000			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome					94			69		0	0	1	0	0
C10orf113	387638	broad.mit.edu	37	10	21414932	21414932	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:21414932G>A	uc001iqm.3	-	1	339	c.288C>T	c.(286-288)ttC>ttT	p.F96F	NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron|C10orf113_uc021pnv.1_3'UTR	NM_001010896	NP_001010896	Q5VZT2	CJ113_HUMAN	Homo sapiens chromosome 10 open reading frame 113 (C10orf113), transcript variant 1, mRNA.	96										endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|pancreas(1)	7						TGTAGAGACTGAAGCTGACTC	0.607000														25			13		0	0	1	0	0
ABCB1	5243	broad.mit.edu	37	7	87145973	87145973	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:87145973G>A	uc003uiz.2	-	24	3429	c.2936C>T	c.(2935-2937)tCa>tTa	p.S979L	ABCB1_uc011khc.2_Missense_Mutation_p.S915L	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	979	ABC transmembrane type-1 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	Golgi membrane|apical plasma membrane|cell surface|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	GACAACAGCTGAAAATACTCT	0.403000														32			14		0	0	1	0	0
OR4M2	390538	broad.mit.edu	37	15	22368697	22368697	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:22368697G>A	uc010tzu.2	+	0	220	c.122G>A	c.(121-123)gGa>gAa	p.G41E	abParts_uc001yuj.2_Intron|OR4N4_uc001yua.3_Intron|OR4N4_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 2 (OR4M2), mRNA.	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		ATCCTACCAGGAAATATCCTT	0.413000														412			92		0	0	1	0	0
MVK	4598	broad.mit.edu	37	12	110017717	110017717	+	Missense_Mutation	SNP	C	T	T	rs104895370		TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:110017717C>T	uc001toy.4	+	3	521	c.337C>T	c.(337-339)Ctt>Ttt	p.L113F	MVK_uc009zvk.3_Missense_Mutation_p.L113F|MVK_uc010sxr.2_Missense_Mutation_p.L113F|MVK_uc001toz.4_Intron|MVK_uc021rdo.1_Missense_Mutation_p.L113F|MVK_uc001tpc.4_Non-coding_Transcript	NM_001114185	NP_001107657	Q03426	KIME_HUMAN	Homo sapiens mevalonate kinase (MVK), transcript variant 2, mRNA.	113					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|peroxisome	ATP binding|identical protein binding|mevalonate kinase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8						GCTGGCCTTTCTTTACTTATA	0.547000														26			13		0	0	1	0	0
ADAM21	8747	broad.mit.edu	37	14	70924520	70924520	+	Missense_Mutation	SNP	C	G	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:70924520C>G	uc021rvq.1	+	0	304	c.304C>G	c.(304-306)Cag>Gag	p.Q102E	ADAM21_uc001xmd.3_Missense_Mutation_p.Q102E	NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN	Homo sapiens ADAM metallopeptidase domain 21 (ADAM21), mRNA.	102					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CCTGGAGGATCAGCTCTTCAT	0.507000														108			14		0	0	1	0	0
VWA3A	146177	broad.mit.edu	37	16	22155674	22155674	+	Missense_Mutation	SNP	A	G	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:22155674A>G	uc010vbq.2	+	25	2795	c.2699A>G	c.(2698-2700)cAc>cGc	p.H900R	VWA3A_uc010bxd.3_Non-coding_Transcript|VWA3A_uc002dkg.4_5'UTR|VWA3A_uc010bxe.1_5'Flank	NM_173615	NP_775886	A6NCI4	VWA3A_HUMAN	Homo sapiens von Willebrand factor A domain containing 3A (VWA3A), mRNA.	900						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		TCCGCCAAACACTGCAGCATC	0.468000														30			9		0	0	1	0	0
EPHA3	2042	broad.mit.edu	37	3	89390960	89390960	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:89390960C>T	uc003dqy.3	+	4	1251	c.1026C>T	c.(1024-1026)atC>atT	p.I342I	EPHA3_uc003dqx.1_Silent_p.I342I|EPHA3_uc021xbf.1_Silent_p.I342I	NM_005233	NP_005224	P29320	EPHA3_HUMAN	Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA.	342	Fibronectin type-III 1.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CCTCAGTTATCCTGGACTGGA	0.413000										TSP Lung(6;0.00050)				43			27		0	0	1	0	0
ZBTB46	140685	broad.mit.edu	37	20	62378384	62378384	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr20:62378384G>A	uc002ygv.2	-	4	1870	c.1669C>T	c.(1669-1671)Cct>Tct	p.P557S	ZBTB46_uc002ygu.3_Non-coding_Transcript	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN	Homo sapiens zinc finger and BTB domain containing 46 (ZBTB46), mRNA.	557					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					GCATCCTCAGGGGCCAGGCCC	0.697000														25			13		0	0	1	0	0
ZNF619	285267	broad.mit.edu	37	3	40529414	40529414	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:40529414C>T	uc011azb.2	+	5	1840	c.1533C>T	c.(1531-1533)ttC>ttT	p.F511F	ZNF619_uc011aza.2_Silent_p.F413F|ZNF619_uc011azc.2_Silent_p.F471F|ZNF619_uc011azd.2_Silent_p.F427F|ZNF619_uc003ckj.3_Silent_p.F455F|ZNF619_uc021wwh.1_Silent_p.F462F	NM_001145082	NP_001138554	E9PCD9	E9PCD9_HUMAN	Homo sapiens zinc finger protein 619 (ZNF619), transcript variant 1, mRNA.	511					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		ATGCAAGTTTCATCCAGCATC	0.498000														29			21		0	0	1	0	0
TNFRSF8	943	broad.mit.edu	37	1	12144549	12144549	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:12144549G>A	uc001atq.3	+	1	314	c.92G>A	c.(91-93)gGa>gAa	p.G31E	TNFRSF8_uc010obc.2_Intron	NM_001243	NP_001234	P28908	TNR8_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 8 (TNFRSF8), transcript variant 1, mRNA.	31					cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of TRAIL biosynthetic process|positive regulation of apoptosis|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		ACCTGTCATGGAAACCCCAGC	0.592000														89			51		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124283811	124283811	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:124283811G>A	uc001uft.4	+	12	1853	c.1828G>A	c.(1828-1830)Gaa>Aaa	p.E610K	DNAH10_uc010tav.1_Missense_Mutation_p.E152K|DNAH10_uc010taw.1_Missense_Mutation_p.E95K	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	610	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AAAATATTTGGAAGTAGGTAG	0.388000														26			21		0	0	1	0	0
MLKL	197259	broad.mit.edu	37	16	74729434	74729434	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:74729434C>T	uc002fdb.2	-	1	663	c.222G>A	c.(220-222)ggG>ggA	p.G74G	MLKL_uc002fdc.2_Silent_p.G74G	NM_152649	NP_689862	Q8NB16	MLKL_HUMAN	Homo sapiens mixed lineage kinase domain-like (MLKL), transcript variant 1, mRNA.	74							ATP binding|protein binding|protein kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						TTTCTATCTCCCCATTAGCCT	0.498000														53			32		0	0	1	0	0
CD5	921	broad.mit.edu	37	11	60893271	60893271	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:60893271C>T	uc009ynk.3	+	9	1551	c.1448C>T	c.(1447-1449)tCc>tTc	p.S483F		NM_014207	NP_055022	P06127	CD5_HUMAN	Homo sapiens CD5 molecule (CD5), mRNA.	483					cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		GACAACTCCTCCGACAGTGAC	0.607000														41			13		0	0	1	0	0
DSC3	1825	broad.mit.edu	37	18	28576965	28576965	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr18:28576965C>T	uc002kwj.4	-	14	2440	c.2285G>A	c.(2284-2286)gGt>gAt	p.G762D	DSC3_uc002kwi.4_Missense_Mutation_p.G762D	NM_001941	NP_001932	Q14574	DSC3_HUMAN	Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.	762					homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			ACCACAAAAACCTTGGCTAGA	0.413000														59			10		0	0	1	0	0
LY86	9450	broad.mit.edu	37	6	6626600	6626600	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:6626600C>T	uc003mwy.1	+	2	332	c.298C>T	c.(298-300)Ccc>Tcc	p.P100S		NM_004271	NP_004262	O95711	LY86_HUMAN	Homo sapiens lymphocyte antigen 86 (LY86), mRNA.	100					apoptosis|cell proliferation|humoral immune response|inflammatory response|innate immune response	extracellular space|plasma membrane				large_intestine(2)|lung(6)	8	Ovarian(93;0.0377)					TTTCTCCTATCCCATCTGTGA	0.483000														63			14		0	0	1	0	0
CIT	11113	broad.mit.edu	37	12	120270644	120270644	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:120270644G>A	uc001txj.2	-	6	740	c.684C>T	c.(682-684)ctC>ctT	p.L228L	CIT_uc001txi.2_Silent_p.L228L	NM_001206999	NP_001193928	O14578	CTRO_HUMAN	Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA.	228	Protein kinase.				intracellular signal transduction		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TGCGGTCAACGAGAATGTTCT	0.418000														69			54		0	0	1	0	0
MYBPC3	4607	broad.mit.edu	37	11	47364270	47364271	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:47364270_47364271GG>AA	uc021qis.1	-	16	1537_1538	c.1482_1483CC>TT	c.(1480-1485)acccgg>acTTgg	p.R495W	MYBPC3_uc021qir.1_Missense_Mutation_p.R147W|MYBPC3_uc010rhl.2_Non-coding_Transcript	NM_000256	NP_000247	Q14896	MYPC3_HUMAN	Homo sapiens myosin binding protein C, cardiac (MYBPC3), mRNA.	494	Ig-like C2-type 3.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	ATPase activator activity|actin binding|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		GTCTCCTCCCGGGTCAGCTCCA	0.624000														71			44		0	0	1	0	0
NRG1	3084	broad.mit.edu	37	8	32621534	32621534	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:32621534C>T	uc003xiv.2	+	11	2054	c.1537C>T	c.(1537-1539)Cct>Tct	p.P513S	NRG1_uc022ats.1_Missense_Mutation_p.P463S|NRG1_uc010lvo.2_3'UTR|NRG1_uc003xiu.2_Missense_Mutation_p.P518S|NRG1_uc003xiw.2_Missense_Mutation_p.P510S|NRG1_uc003xit.2_3'UTR|NRG1_uc010lvr.2_Missense_Mutation_p.P255S|NRG1_uc010lvs.2_Missense_Mutation_p.P255S|NRG1_uc010lvp.2_Missense_Mutation_p.P467S|NRG1_uc010lvq.2_Missense_Mutation_p.P443S|NRG1_uc011lbg.1_3'UTR|NRG1_uc011lbh.1_Missense_Mutation_p.P356S|NRG1_uc003xja.2_Missense_Mutation_p.P324S	NM_013964	NP_039258	Q02297	NRG1_HUMAN	Homo sapiens neuregulin 1 (NRG1), transcript variant HRG-alpha, mRNA.	513					Notch signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	ErbB-3 class receptor binding|cytokine activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		TAACAGCCTCCCTGCTAGCCC	0.562000														20			14		0	0	1	0	0
EREG	2069	broad.mit.edu	37	4	75246812	75246812	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:75246812G>A	uc003hie.1	+	2	402	c.236G>A	c.(235-237)gGa>gAa	p.G79E	EREG_uc003hid.3_Missense_Mutation_p.G73E	NM_001432	NP_001423	O14944	EREG_HUMAN	Homo sapiens epiregulin (EREG), mRNA.	79	EGF-like.				angiogenesis|cell-cell signaling|cytokine-mediated signaling pathway|epidermal growth factor receptor signaling pathway|female meiosis|keratinocyte differentiation|keratinocyte proliferation|luteinizing hormone signaling pathway|mRNA transcription|negative regulation of epithelial cell proliferation|negative regulation of smooth muscle cell differentiation|negative regulation of transcription, DNA-dependent|oocyte maturation|organ morphogenesis|ovarian cumulus expansion|ovulation|positive regulation of DNA replication|positive regulation of cell division|positive regulation of cytokine production|positive regulation of epidermal growth factor receptor activity|positive regulation of fibroblast proliferation|positive regulation of innate immune response|positive regulation of interleukin-6 biosynthetic process|positive regulation of mitosis|positive regulation of phosphorylation|positive regulation of smooth muscle cell proliferation|primary follicle stage|wound healing	extracellular space|integral to plasma membrane	epidermal growth factor receptor binding|growth factor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13			Lung(101;0.196)			TGTTTGCATGGACAGTGCATC	0.373000														103			52		0	0	1	0	0
OR2L13	284521	broad.mit.edu	37	1	248263037	248263037	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:248263037C>T	uc001ids.3	+	2	697	c.360C>T	c.(358-360)gaC>gaT	p.D120D	OR2L13_uc021pmc.1_Silent_p.D120D	NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 13 (OR2L13), mRNA.	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	p.Y119Y(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			TGGCCTACGACCGTTATTTGG	0.502000														127			72		0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23873577	23873577	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:23873577G>A	uc001wjv.3	-	7	734	c.663C>T	c.(661-663)atC>atT	p.I221I	MYH6_uc010akp.2_Silent_p.I221I	NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	221	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	p.I221I(2)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TGGCCTGGATGATCTGGTCCT	0.612000														77			44		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106829745	106829745	+	RNA	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:106829745C>T	uc021ser.1	-	518		c.15158G>A			abParts_uc001ysx.1_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		TTCCCCAATCCACTCCAGCCC	0.562000														54			24		0	0	1	0	0
IMPDH1	3614	broad.mit.edu	37	7	128034608	128034608	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:128034608G>A	uc011kol.1	-	11	1447	c.1341C>T	c.(1339-1341)atC>atT	p.I447I	IMPDH1_uc011kom.1_Silent_p.I442I|IMPDH1_uc003vmt.2_Silent_p.I422I|IMPDH1_uc003vmu.2_Silent_p.I532I|IMPDH1_uc003vmx.2_Silent_p.I455I|IMPDH1_uc003vmy.2_Silent_p.I463I|IMPDH1_uc003vmw.2_Silent_p.I522I|IMPDH1_uc011kon.1_Silent_p.I499I|IMPDH1_uc003vmv.2_Silent_p.I496I|DQ595173_uc022ala.1_5'Flank	NM_001142573	NP_001136045	P20839	IMDH1_HUMAN	Homo sapiens IMP (inosine 5'-monophosphate) dehydrogenase 1 (IMPDH1), transcript variant 5, mRNA.	447					GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22					Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)	CTTTGTCCTGGATGGAGCCCG	0.602000														62			108		0	0	1	0	0
ANKS1B	56899	broad.mit.edu	37	12	100206089	100206089	+	Splice_Site	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:100206089C>T	uc001tge.2	-	3	633	c.216_splice	c.e3-1	p.K72_splice	ANKS1B_uc001tgf.2_Intron|ANKS1B_uc009ztt.1_Splice_Site_p.K72_splice	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1B (ANKS1B), transcript variant 1, mRNA.	72						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		GAACTATGTCCCTAAAAAGGA	0.373000														25			18		0	0	1	0	0
CXADRP2	646243	broad.mit.edu	37	15	22016386	22016386	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:22016386G>A	uc010tzk.1	-	0	493	c.331C>T	c.(331-333)Ctt>Ttt	p.L111F						Homo sapiens coxsackie virus and adenovirus receptor pseudogene 2 (CXADRP2), non-coding RNA.																		GGCTTACCAAGAACTACCAGC	0.373000														98			8		0	0	1	0	0
C3orf15	89876	broad.mit.edu	37	3	119445136	119445136	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:119445136G>A	uc003ede.4	+	6	878	c.801G>A	c.(799-801)agG>agA	p.R267R	C3orf15_uc010hqy.2_Silent_p.R267R|C3orf15_uc010hqz.3_Silent_p.R205R|C3orf15_uc011bjd.2_Silent_p.R141R|C3orf15_uc011bje.2_Silent_p.R247R|C3orf15_uc010hra.2_Silent_p.R28R	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN	Homo sapiens chromosome 3 open reading frame 15 (C3orf15), mRNA.	267						mitochondrion	protein binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.186)		AGAAGAGGAGGAAAATGATGA	0.517000														20			14		0	0	1	0	0
ITSN1	6453	broad.mit.edu	37	21	35247658	35247658	+	Splice_Site	SNP	A	C	C			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr21:35247658A>C	uc002yta.1	+	34	4442	c.4174_splice	c.e34-1	p.I1392_splice	DONSON_uc002ysn.1_Intron|ITSN1_uc002ytb.1_Splice_Site_p.I1387_splice|ITSN1_uc002ytj.2_Intron|ITSN1_uc010gmm.1_Splice_Site|ITSN1_uc010gmn.1_Splice_Site|ITSN1_uc002ytk.1_Splice_Site	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	Homo sapiens intersectin 1 (SH3 domain protein) (ITSN1), transcript variant 1, mRNA.	1392	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	Rho guanyl-nucleotide exchange factor activity|calcium ion binding|proline-rich region binding|protein complex scaffold			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						TCCTGTGTAGATCCTGGAAAA	0.592000														30			24		0	0	1	0	0
CAMK4	814	broad.mit.edu	37	5	110819866	110819866	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:110819866G>A	uc003kpf.3	+	10	1359	c.1124G>A	c.(1123-1125)gGa>gAa	p.G375E	CAMK4_uc010jbv.3_Missense_Mutation_p.G178E|CAMK4_uc003kpg.3_Missense_Mutation_p.G66E	NM_001744	NP_001735	Q16566	KCC4_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase IV (CAMK4), mRNA.	375					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		ATTCCAGAAGGAGAGAAAATT	0.532000														42			25		0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113519565	113519565	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:113519565C>T	uc010ljy.1	-	3	1613	c.1582G>A	c.(1582-1584)Gaa>Aaa	p.E528K		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	528					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CTTTGTTTTTCATTAACACCT	0.348000														6			9		0	0	1	0	0
SPATA16	83893	broad.mit.edu	37	3	172766766	172766766	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:172766766G>A	uc003fin.4	-	2	915	c.731C>T	c.(730-732)cCa>cTa	p.P244L		NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	Homo sapiens spermatogenesis associated 16 (SPATA16), mRNA.	244					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			GGCAAGATCTGGTTTCCTCAT	0.428000														65			26		0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16902874	16902874	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:16902874G>A	uc009vos.1	-	18	2895	c.2007C>T	c.(2005-2007)ctC>ctT	p.L669L	NBPF1_uc009vot.1_Intron|NBPF1_uc001ayz.1_Silent_p.L127L|NBPF1_uc010oce.1_Silent_p.L398L	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.	669						cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		GGAGGGCCTGGAGATGCTGAT	0.547000														528			30		0	0	1	0	0
COL4A2	1284	broad.mit.edu	37	13	111082242	111082242	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr13:111082242G>A	uc001vqx.3	+	7	777	c.488G>A	c.(487-489)gGa>gAa	p.G163E		NM_001846	NP_001837	P08572	CO4A2_HUMAN	Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.	163					angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GGGCCCCAAGGACCAAAAGGG	0.453000														32			13		0	0	1	0	0
RNF180	285671	broad.mit.edu	37	5	63509470	63509470	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:63509470C>T	uc003jti.3	+	3	427	c.317C>T	c.(316-318)tCc>tTc	p.S106F	RNF180_uc003jth.4_Missense_Mutation_p.S106F|RNF180_uc010iws.3_Intron	NM_001113561	NP_001107033	Q86T96	RN180_HUMAN	Homo sapiens ring finger protein 180 (RNF180), transcript variant 1, mRNA.	106						integral to membrane|nuclear envelope	zinc ion binding			breast(1)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	20		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234)		Lung(70;0.114)		CCAAAATGTTCCTGTGGCCAG	0.478000														128			74		0	0	1	0	0
IGSF9B	22997	broad.mit.edu	37	11	133789947	133789947	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:133789947G>A	uc001qgx.4	-	17	3904	c.3673C>T	c.(3673-3675)Cgc>Tgc	p.R1225C		NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	Homo sapiens immunoglobulin superfamily, member 9B (IGSF9B), mRNA.	1225	Pro-rich.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		AGGCCCGGGCGAGGCCGGGCA	0.677000														22			9		0	0	1	0	0
OPA1	4976	broad.mit.edu	37	3	193376716	193376716	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:193376716C>T	uc003ftg.3	+	23	2606	c.2372C>T	c.(2371-2373)tCt>tTt	p.S791F	OPA1_uc003fth.3_Missense_Mutation_p.S755F|OPA1_uc003fti.3_Missense_Mutation_p.S773F|OPA1_uc003ftj.3_Missense_Mutation_p.S754F|OPA1_uc003ftk.3_Missense_Mutation_p.S737F|OPA1_uc003ftl.3_Missense_Mutation_p.S718F|OPA1_uc003ftm.3_Missense_Mutation_p.S736F|OPA1_uc003ftn.3_Missense_Mutation_p.S700F	NM_130837	NP_570850	O60313	OPA1_HUMAN	Homo sapiens optic atrophy 1 (autosomal dominant) (OPA1), nuclear gene encoding mitochondrial protein, transcript variant 8, mRNA.	736					apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		CGATCCATATCTGATAAACAG	0.388000														49			25		0	0	1	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17699264	17699264	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:17699264C>T	uc002rcl.1	-	0	443	c.419G>A	c.(418-420)aGa>aAa	p.R140K	RAD51AP2_uc010exn.1_Missense_Mutation_p.R131K	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	Homo sapiens RAD51 associated protein 2 (RAD51AP2), mRNA.	140										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GAAAGCCTCTCTGTCATGCAG	0.483000														38			18		0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198685852	198685852	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:198685852G>A	uc001gur.1	+	12	1507	c.1327G>A	c.(1327-1329)Gat>Aat	p.D443N	PTPRC_uc001gut.1_Missense_Mutation_p.D282N|PTPRC_uc009wzf.1_Missense_Mutation_p.D331N|PTPRC_uc021pgy.1_Missense_Mutation_p.D397N|PTPRC_uc010ppg.1_Missense_Mutation_p.D379N	NM_002838	NP_002829	P08575	PTPRC_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.	443	Fibronectin type-III 1.				B cell proliferation|B cell receptor signaling pathway|T cell differentiation|T cell receptor signaling pathway|axon guidance|defense response to virus|immunoglobulin biosynthetic process|negative regulation of T cell mediated cytotoxicity|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|positive regulation of B cell proliferation|positive regulation of T cell proliferation|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of protein kinase activity|regulation of S phase|release of sequestered calcium ion into cytosol	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						GATCAAATATGATTTGCAAAA	0.318000														16			20		0	0	1	0	0
ZFP37	7539	broad.mit.edu	37	9	115812134	115812134	+	Missense_Mutation	SNP	G	A	A	rs142182003		TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:115812134G>A	uc011lwz.1	-	1	224	c.196C>T	c.(196-198)Cct>Tct	p.P66S	ZFP37_uc004bgm.1_Missense_Mutation_p.P51S|ZFP37_uc011lxa.1_Missense_Mutation_p.P52S	NM_003408	NP_003399	Q9Y6Q3	ZFP37_HUMAN	Homo sapiens zinc finger protein 37 homolog (mouse) (ZFP37), mRNA.	51	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CTCTGAGCAGGATCCAGTTGC	0.413000														46			27		0	0	1	0	0
RBM11	54033	broad.mit.edu	37	21	15592017	15592017	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr21:15592017G>A	uc002yjo.4	+	1	272	c.230G>A	c.(229-231)gGa>gAa	p.G77E	RBM11_uc002yjn.4_5'UTR|RBM11_uc002yjp.4_Intron	NM_144770	NP_658983	P57052	RBM11_HUMAN	Homo sapiens RNA binding motif protein 11 (RBM11), mRNA.	77	RRM.						RNA binding|nucleotide binding			endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		CGTTTATATGGAAGACCAATT	0.388000														16			11		0	0	1	0	0
TEAD4	7004	broad.mit.edu	37	12	3129908	3129908	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:3129908C>T	uc010sej.2	+	8	984	c.692C>T	c.(691-693)gCc>gTc	p.A231V	TEAD4_uc010sek.2_Missense_Mutation_p.A188V|TEAD4_uc001qln.3_Missense_Mutation_p.A102V	NM_201443	NP_958851	Q15561	TEAD4_HUMAN	Homo sapiens TEA domain family member 4 (TEAD4), transcript variant 3, mRNA.	231					hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			GAGTTCTCTGCCTTCCTGGAG	0.682000														34			23		0	0	1	0	0
SIK1	150094	broad.mit.edu	37	21	44840909	44840909	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr21:44840909G>A	uc002zdf.2	-	6	856	c.729C>T	c.(727-729)atC>atT	p.I243I		NM_173354	NP_775490	P57059	SIK1_HUMAN	Homo sapiens salt-inducible kinase 1 (SIK1), mRNA.	243	Protein kinase.				anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21						TGAAGAAGGGGATGCGGAAGC	0.632000														11			6		0	0	1	0	0
CDH9	1007	broad.mit.edu	37	5	26881493	26881493	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:26881493C>T	uc003jgs.1	-	11	2291	c.2122G>A	c.(2122-2124)Gaa>Aaa	p.E708K	CDH9_uc011cnv.1_Missense_Mutation_p.E301K	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	708					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TCAATATTTTCCCACAGAGGC	0.418000														39			28		0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212286826	212286826	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:212286826C>T	uc002veg.1	-	23	2968	c.2870G>A	c.(2869-2871)tGg>tAg	p.W957*	ERBB4_uc002veh.1_Nonsense_Mutation_p.W957*|ERBB4_uc010zji.1_Nonsense_Mutation_p.W947*|ERBB4_uc010zjj.1_Nonsense_Mutation_p.W947*	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.	957	Protein kinase.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		ATCAATCATCCAACCTGGAAA	0.353000										TSP Lung(8;0.080)				30			9		0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23894149	23894149	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:23894149G>A	uc001wjx.3	-	21	2614	c.2508C>T	c.(2506-2508)atC>atT	p.I836I		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	836					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GCAGCGGCTTGATCTTGAAGT	0.557000														54			22		0	0	1	0	0
ZNF835	90485	broad.mit.edu	37	19	57176461	57176461	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:57176461C>A	uc010ygn.2	-	1	333	c.106G>T	c.(106-108)Gag>Tag	p.E36*		NM_001005850	NP_001005850			Homo sapiens zinc finger protein 835 (ZNF835), mRNA.											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						GCCTCTGGCTCTGGACAGCTT	0.602000														33			14		5.35267e-07	5.3892e-07	1	1	0
GPR98	84059	broad.mit.edu	37	5	89990161	89990161	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:89990161G>A	uc003kju.3	+	32	7684	c.7588G>A	c.(7588-7590)Gat>Aat	p.D2530N	GPR98_uc003kjt.3_Missense_Mutation_p.D236N|GPR98_uc003kjv.3_Missense_Mutation_p.D130N	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	2530	Calx-beta 17.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TCTTCCTGATGATTTCCCAGA	0.453000														42			23		0	0	1	0	0
TOMM22	56993	broad.mit.edu	37	22	39078419	39078419	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr22:39078419C>T	uc003awe.3	+	1	239	c.209C>T	c.(208-210)tCc>tTc	p.S70F	BC036921_uc003awd.3_5'Flank	NM_020243	NP_064628	Q9NS69	TOM22_HUMAN	Homo sapiens translocase of outer mitochondrial membrane 22 homolog (yeast) (TOMM22), nuclear gene encoding mitochondrial protein, mRNA.	70					protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial outer membrane translocase complex	protein binding|protein transmembrane transporter activity|receptor activity			large_intestine(1)|lung(2)	3	Melanoma(58;0.04)					TTTGATCTTTCCCTCTTTGTG	0.567000														100			30		0	0	1	0	0
HOOK2	29911	broad.mit.edu	37	19	12876772	12876772	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:12876772G>A	uc002muy.2	-	15	1739	c.1568C>T	c.(1567-1569)gCc>gTc	p.A523V	HOOK2_uc002muz.2_Missense_Mutation_p.A523V	NM_013312	NP_037444	Q96ED9	HOOK2_HUMAN	Homo sapiens hook homolog 2 (Drosophila) (HOOK2), transcript variant 1, mRNA.	523	Sufficient for interaction with microtubules.				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	FHF complex|centrosome|microtubule	identical protein binding|microtubule binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						CTCCTGCAGGGCTTTCTGCAG	0.652000											OREG0025273	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		41			20		0	0	1	0	0
FAM113B	91523	broad.mit.edu	37	12	47628852	47628852	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:47628852C>T	uc001rpq.3	+	1	531	c.6C>T	c.(4-6)atC>atT	p.I2I	FAM113B_uc001rpn.3_Silent_p.I2I|FAM113B_uc021qxi.1_Silent_p.I2I	NM_138371	NP_612380	Q96HM7	F113B_HUMAN	Homo sapiens family with sequence similarity 113, member B (FAM113B), mRNA.	2							hydrolase activity			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(10)	35	Renal(347;0.138)|Lung SC(27;0.192)					GCGTCATGATCCTTCTGCGGG	0.592000														26			15		0	0	1	0	0
OR51B6	390058	broad.mit.edu	37	11	5373490	5373490	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:5373490C>T	uc010qzb.2	+	0	753	c.753C>T	c.(751-753)gtC>gtT	p.V251V	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004750	NP_001004750	Q9H340	O51B6_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 6 (OR51B6), mRNA.	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTTCTATGTCACTGTAGTTT	0.443000														91			46		0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57587368	57587368	+	Missense_Mutation	SNP	G	C	C			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:57587368G>C	uc001snd.3	+	46	8170	c.7704G>C	c.(7702-7704)aaG>aaC	p.K2568N	MIR1228_uc021qzh.1_5'Flank	NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	2568	LDL-receptor class A 12.				aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GCTGCAAGAAGACTTTCCGGC	0.607000														38			3		0	0	1	0	0
TRIM55	84675	broad.mit.edu	37	8	67066540	67066540	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:67066540G>A	uc003xvv.3	+	8	1721	c.1495G>A	c.(1495-1497)Gaa>Aaa	p.E499K	TRIM55_uc003xvu.3_Missense_Mutation_p.E499K|TRIM55_uc003xvw.3_Intron|TRIM55_uc003xvx.3_Intron	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	Homo sapiens tripartite motif containing 55 (TRIM55), transcript variant 1, mRNA.	499						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			GAGTGGTAAGGAAACTAGTGC	0.562000														24			63		0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129511477	129511477	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:129511477G>A	uc021zfb.1	+	10	1700	c.1595G>A	c.(1594-1596)tGg>tAg	p.W532*	LAMA2_uc003qbn.3_Nonsense_Mutation_p.W532*|LAMA2_uc003qbo.3_Nonsense_Mutation_p.W532*	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	532	Laminin IV type A 1.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AGTTCCTACTGGACCTATGGC	0.443000														5			7		0	0	1	0	0
SLC22A9	114571	broad.mit.edu	37	11	63176271	63176271	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:63176271C>T	uc001nww.3	+	8	1789	c.1521C>T	c.(1519-1521)ttC>ttT	p.F507F	SLC22A9_uc001nwx.3_Intron	NM_080866	NP_543142	Q8IVM8	S22A9_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 9 (SLC22A9), mRNA.	507					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						TCTTCCCCTTCATCTCTGGCT	0.493000														54			24		0	0	1	0	0
SLC4A5	57835	broad.mit.edu	37	2	74466513	74466513	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:74466513G>A	uc002sko.1	-	15	2270	c.2268C>T	c.(2266-2268)tcC>tcT	p.S756S	SLC4A5_uc002skl.3_Non-coding_Transcript|SLC4A5_uc002skn.3_Silent_p.S756S|SLC4A5_uc010ffc.1_Silent_p.S756S|SLC4A5_uc002skp.1_Silent_p.S692S|SLC4A5_uc002sks.1_Silent_p.S756S	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 5 (SLC4A5), transcript variant a, mRNA.	756						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TCAGGGTCATGGAGTATGTCC	0.532000														43			24		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24924458	24924458	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:24924458G>A	uc001ywo.3	+	0	3918	c.3444G>A	c.(3442-3444)agG>agA	p.R1148R		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	1148					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CATATGTTAGGAGACATGTCT	0.433000														70			28		0	0	1	0	0
PLA2G3	50487	broad.mit.edu	37	22	31532757	31532757	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr22:31532757G>A	uc003aka.3	-	5	1357	c.1228C>T	c.(1228-1230)Cca>Tca	p.P410S		NM_015715	NP_056530	Q9NZ20	PA2G3_HUMAN	Homo sapiens phospholipase A2, group III (PLA2G3), mRNA.	410					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						ACCTCGGGTGGGCTGTGGAGC	0.622000														77			62		0	0	1	0	0
PLCG1	5335	broad.mit.edu	37	20	39794419	39794419	+	Silent	SNP	C	T	T	rs149803392		TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr20:39794419C>T	uc002xjp.1	+	15	1873	c.1752C>T	c.(1750-1752)ctC>ctT	p.L584L	PLCG1_uc002xjo.1_Silent_p.L584L|PLCG1_uc010zwe.1_Silent_p.L210L|PLCG1_uc010ggf.3_5'Flank	NM_182811	NP_877963	P19174	PLCG1_HUMAN	Homo sapiens phospholipase C, gamma 1 (PLCG1), transcript variant 2, mRNA.	584	SH2 1.				T cell receptor signaling pathway|activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				GCTCCTTCCTCGTGCGAGAGA	0.582000														41			17		0	0	1	0	0
SALL3	27164	broad.mit.edu	37	18	76757090	76757090	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr18:76757090C>T	uc002lmt.3	+	2	3671	c.3671C>T	c.(3670-3672)gCc>gTc	p.A1224V	SALL3_uc010dra.3_Missense_Mutation_p.A759V	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.	1224					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		AACGGGCTCGCCATGAAGAAC	0.597000														72			90		0	0	1	0	0
CA10	56934	broad.mit.edu	37	17	50008401	50008401	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:50008401C>T	uc002itv.4	-	3	982	c.246G>A	c.(244-246)atG>atA	p.M82I	CA10_uc002itw.4_Missense_Mutation_p.M76I|CA10_uc002itx.4_Missense_Mutation_p.M76I|CA10_uc002ity.4_Missense_Mutation_p.M76I|CA10_uc002itz.2_Missense_Mutation_p.M76I	NM_020178	NP_064563	Q9NS85	CAH10_HUMAN	Homo sapiens carbonic anhydrase X (CA10), transcript variant 2, mRNA.	76					brain development			p.M76I(2)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			GGTCGAAGATCATGTGACTGG	0.498000														147			71		0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48390545	48390545	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:48390545C>T	uc001jez.3	-	0	447	c.333G>A	c.(331-333)gaG>gaA	p.E111E		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	111	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CAAGCAGTTCCTCTTCTGAGA	0.637000														72			26		0	0	1	0	0
AZGP1	563	broad.mit.edu	37	7	99569423	99569423	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:99569423C>T	uc003ush.3	-	1	375	c.283G>A	c.(283-285)Gac>Aac	p.D95N		NM_001185	NP_001176	P25311	ZA2G_HUMAN	Homo sapiens alpha-2-glycoprotein 1, zinc-binding (AZGP1), mRNA.	95					antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	MHC class I protein complex|extracellular region	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					ATAAAGATGTCCTCCCTGGCC	0.507000														61			37		0	0	1	0	0
SPANXN2	494119	broad.mit.edu	37	X	142795358	142795358	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:142795358C>T	uc004fbz.3	-	1	1074	c.320G>A	c.(319-321)gGa>gAa	p.G107E		NM_001009615	NP_001009615	Q5MJ10	SPXN2_HUMAN	Homo sapiens SPANX family, member N2 (SPANXN2), mRNA.	107										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CTGTGAAGATCCTTCAGATGA	0.527000														159			10		0	0	1	0	0
TPTE2	93492	broad.mit.edu	37	13	20126728	20126728	+	RNA	SNP	G	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr13:20126728G>T	uc010tcm.2	-	2		c.263C>A						Q6XPS3	TPTE2_HUMAN	Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.							endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		ATTGTTAACTGGGAACTCCCA	0.393000														45			17		2.37509e-13	2.4042e-13	1	1	0
PPARGC1B	133522	broad.mit.edu	37	5	149206376	149206376	+	Silent	SNP	C	T	T	rs149468899		TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:149206376C>T	uc003lrc.3	+	2	484	c.393C>T	c.(391-393)ccC>ccT	p.P131P	PPARGC1B_uc003lrb.2_Silent_p.P131P|PPARGC1B_uc003lrd.3_Silent_p.P131P|PPARGC1B_uc021yfr.1_Silent_p.P106P|PPARGC1B_uc003lre.1_Silent_p.P110P|PPARGC1B_uc003lrf.3_Silent_p.P110P	NM_133263	NP_573570	Q86YN6	PRGC2_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 beta (PPARGC1B), transcript variant 1, mRNA.	131					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|RNA binding|RNA polymerase II transcription cofactor activity|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CGCCTGCCCCCTCATCTGCAC	0.617000														50			28		0	0	1	0	0
MIR520E	574461	broad.mit.edu	37	19	54178988	54178988	+	RNA	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:54178988G>A	uc021uzn.1	+	0		c.24G>A								Homo sapiens microRNA 520e (MIR520E), microRNA.																		CCCTCAAGATGGAAGCAGTTT	0.433000														33			14		0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153054170	153054170	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:153054170G>A	uc011dcy.2	+	5	867	c.840G>A	c.(838-840)tgG>tgA	p.W280*	GRIA1_uc003lva.4_Nonsense_Mutation_p.W270*|GRIA1_uc003luy.4_Nonsense_Mutation_p.W270*|GRIA1_uc003luz.4_Nonsense_Mutation_p.W175*|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Nonsense_Mutation_p.W190*|GRIA1_uc011dcx.2_Nonsense_Mutation_p.W201*|GRIA1_uc011dcz.2_Nonsense_Mutation_p.W280*|GRIA1_uc010jia.1_Nonsense_Mutation_p.W250*	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	270					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TGCAGCAGTGGAAGAATAGTG	0.532000														67			39		0	0	1	0	0
OR1N2	138882	broad.mit.edu	37	9	125316128	125316128	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:125316128C>T	uc011lyx.2	+	0	680	c.680C>T	c.(679-681)cCc>cTc	p.P227L		NM_001004457	NP_001004457	Q8NGR9	OR1N2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily N, member 2 (OR1N2), mRNA.	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						CTCACTGTTCCCCTCCTGCTG	0.502000														117			50		0	0	1	0	0
BCO2	83875	broad.mit.edu	37	11	112050169	112050169	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:112050169G>A	uc001pnf.3	+	1	374	c.257G>A	c.(256-258)cGa>cAa	p.R86Q	BCO2_uc001pne.1_Intron|BCO2_uc001png.3_Missense_Mutation_p.R86Q|BCO2_uc001pnh.3_Missense_Mutation_p.R52Q|BCO2_uc010rwt.2_Intron|BCO2_uc009yyn.3_Missense_Mutation_p.R52Q|BCO2_uc001pni.3_Missense_Mutation_p.R52Q	NM_031938	NP_001032367	Q9BYV7	BCDO2_HUMAN	Homo sapiens beta-carotene oxygenase 2 (BCO2), transcript variant 1, mRNA.	86					carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						TCTCTACTTCGAATTGGACCT	0.498000														49			22		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228890217	228890217	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:228890217G>A	uc002vpq.2	-	4	381	c.334C>T	c.(334-336)Cca>Tca	p.P112S	SPHKAP_uc002vpp.2_Missense_Mutation_p.P112S|SPHKAP_uc010zlx.1_Missense_Mutation_p.P112S	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	112						cytoplasm	protein binding	p.L111I(1)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		ATAAGTTTTGGAAGATCTGGT	0.358000														42			23		0	0	1	0	0
ST14	6768	broad.mit.edu	37	11	130059738	130059738	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:130059738C>T	uc001qfw.3	+	4	738	c.545C>T	c.(544-546)cCc>cTc	p.P182L	ST14_uc010sca.1_5'Flank	NM_021978	NP_068813	Q9Y5Y6	ST14_HUMAN	Homo sapiens suppression of tumorigenicity 14 (colon carcinoma) (ST14), mRNA.	182					proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	GTCATGCTGCCCCCGCGGGCG	0.667000														56			29		0	0	1	0	0
LCE1D	353134	broad.mit.edu	37	1	152770602	152770602	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:152770602G>A	uc021ozh.1	+	0	332	c.332G>A	c.(331-333)gGa>gAa	p.G111E	LCE1D_uc009wnp.3_Missense_Mutation_p.G111E	NM_178352	NP_848129	Q5T752	LCE1D_HUMAN	Homo sapiens late cornified envelope 1D (LCE1D), mRNA.	111	Cys-rich.				cellular response to calcium ion|keratinization	cornified envelope|perinuclear region of cytoplasm				large_intestine(1)	1	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGCACTCTGGAGGCTGCTGC	0.612000														75			28		0	0	1	0	0
GDF2	2658	broad.mit.edu	37	10	48413594	48413594	+	Missense_Mutation	SNP	T	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:48413594T>A	uc001jfa.1	-	1	1434	c.1274A>T	c.(1273-1275)gAg>gTg	p.E425V		NM_016204	NP_057288	Q9UK05	GDF2_HUMAN	Homo sapiens growth differentiation factor 2 (GDF2), mRNA.	425					BMP signaling pathway|activin receptor signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of DNA replication|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						GCACCCACACTCTGCCACGCT	0.607000														13			6		0	0	1	0	0
LRRN1	57633	broad.mit.edu	37	3	3887441	3887441	+	Silent	SNP	C	T	T	rs144871484		TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:3887441C>T	uc003bpt.4	+	1	1877	c.1116C>T	c.(1114-1116)ccC>ccT	p.P372P	SUMF1_uc003bps.2_Intron|LRRN1_uc021wsh.1_Silent_p.P372P	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	Homo sapiens leucine rich repeat neuronal 1 (LRRN1), mRNA.	372	LRRCT.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		ATAGCAATCCCCTCAGGTGTG	0.483000														64			28		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13811842	13811842	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:13811842G>A	uc003jfd.2	-	43	7363	c.7321C>T	c.(7321-7323)Cag>Tag	p.Q2441*		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2441	AAA 2 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCTAAGTTCTGGATACAGAAG	0.448000									Kartagener syndrome					39			22		0	0	1	0	0
KLK9	284366	broad.mit.edu	37	19	51507024	51507024	+	Missense_Mutation	SNP	G	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:51507024G>T	uc002pux.1	-	3	626	c.539C>A	c.(538-540)cCt>cAt	p.P180H	KLK9_uc002puw.1_Non-coding_Transcript|KLK9_uc010eol.1_Missense_Mutation_p.P151H|KLK8_uc002puq.1_5'Flank|KLK8_uc002pur.1_5'Flank|KLK8_uc002pus.1_5'Flank|KLK8_uc002put.1_5'Flank|KLK8_uc002puu.1_5'Flank|KLK8_uc002puv.1_Non-coding_Transcript	NM_012315	NP_036447	Q9UKQ9	KLK9_HUMAN	Homo sapiens kallikrein-related peptidase 9 (KLK9), mRNA.	180	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.Y179*(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7		all_neural(266;0.0652)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		GATGTGTCCAGGGTATGCCCA	0.572000														67			3		1	1	1	1	0
ENAM	10117	broad.mit.edu	37	4	71508128	71508128	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:71508128C>T	uc011caw.1	+	8	1266	c.985C>T	c.(985-987)Cct>Tct	p.P329S		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Homo sapiens enamelin (ENAM), mRNA.	329					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			AAGAAATTTTCCTTCAGGAAG	0.448000														64			26		0	0	1	0	0
SPATA16	83893	broad.mit.edu	37	3	172835116	172835116	+	Missense_Mutation	SNP	G	A	A	rs144595913		TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:172835116G>A	uc003fin.4	-	1	590	c.406C>T	c.(406-408)Cgc>Tgc	p.R136C		NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	Homo sapiens spermatogenesis associated 16 (SPATA16), mRNA.	136					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding	p.R136R(1)		breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			AACTCATAGCGAACACCCATT	0.418000														68			25		0	0	1	0	0
ARHGAP12	94134	broad.mit.edu	37	10	32197535	32197535	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:32197535C>T	uc001ivz.1	-	2	519	c.249G>A	c.(247-249)caG>caA	p.Q83Q	ARHGAP12_uc001ivy.1_Silent_p.Q81Q|ARHGAP12_uc009xls.2_Silent_p.Q81Q|ARHGAP12_uc001iwb.1_Silent_p.Q81Q|ARHGAP12_uc001iwc.1_Silent_p.Q81Q|ARHGAP12_uc009xlq.1_Silent_p.Q81Q|ARHGAP12_uc009xlr.1_Silent_p.Q81Q	NM_018287	NP_060757	Q8IWW6	RHG12_HUMAN	Homo sapiens Rho GTPase activating protein 12 (ARHGAP12), mRNA.	83					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				GACCAGCTACCTGCTTAACAG	0.458000														30			11		0	0	1	0	0
PAK3	5063	broad.mit.edu	37	X	110459717	110459717	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:110459717C>T	uc010npv.1	+	14	1611	c.1584C>T	c.(1582-1584)ttC>ttT	p.F528F	PAK3_uc010npt.1_Silent_p.F492F|PAK3_uc010npu.1_Silent_p.F492F|PAK3_uc004eoy.1_Silent_p.F247F|PAK3_uc004eoz.2_Silent_p.F492F|PAK3_uc011mst.1_Non-coding_Transcript|PAK3_uc010npw.1_Silent_p.F513F|PAK3_uc004epa.2_Silent_p.F507F	NM_001128168	NP_001121640	O75914	PAK3_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 3 (PAK3), transcript variant 4, mRNA.	507	Protein kinase.				multicellular organismal development		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						CAGCTGTATTCCGTGACTTTT	0.408000										TSP Lung(19;0.15)				12			36		0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	118997498	118997498	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:118997498C>T	uc004bjn.3	+	6	2695	c.2314C>T	c.(2314-2316)Cct>Tct	p.P772S	PAPPA_uc011lxp.1_Missense_Mutation_p.P467S|PAPPA_uc011lxq.2_Intron	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	772					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						ACACACGGTTCCTCCAGCCTG	0.562000														50			25		0	0	1	0	0
GABRQ	55879	broad.mit.edu	37	X	151818999	151818999	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:151818999C>T	uc004ffp.1	+	6	877	c.857C>T	c.(856-858)tCg>tTg	p.S286L		NM_018558	NP_061028	Q9UN88	GBRT_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) receptor, theta (GABRQ), mRNA.	286						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|neurotransmitter transporter activity	p.S286L(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					TCTTGGATATCGTTTTGGATG	0.453000														49			117		0	0	1	0	0
HDGFL1	154150	broad.mit.edu	37	6	22570050	22570050	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:22570050C>T	uc003nds.3	+	0	373	c.246C>T	c.(244-246)atC>atT	p.I82I		NM_138574	NP_612641	Q5TGJ6	HDGL1_HUMAN	Homo sapiens hepatoma derived growth factor-like 1 (HDGFL1), mRNA.	82										kidney(1)|large_intestine(3)|lung(7)	11	Ovarian(93;0.163)					TGTGGGAAATCGAGAACAACC	0.652000														4			13		0	0	1	0	0
MAG	4099	broad.mit.edu	37	19	35793411	35793411	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:35793411C>T	uc002nyy.2	+	6	1229	c.1031C>T	c.(1030-1032)tCt>tTt	p.S344F	MAG_uc002nyx.2_Missense_Mutation_p.S344F|MAG_uc010eds.2_Missense_Mutation_p.S319F|MAG_uc002nyz.2_Missense_Mutation_p.S344F	NM_002361	NP_001186145	P20916	MAG_HUMAN	Homo sapiens myelin associated glycoprotein (MAG), transcript variant 1, mRNA.	344	Ig-like C2-type 3.				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GAGACGGTCTCTATCTTGTGC	0.582000														30			19		0	0	1	0	0
CYP19A1	1588	broad.mit.edu	37	15	51514575	51514575	+	Missense_Mutation	SNP	T	C	C			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:51514575T>C	uc001zyz.4	-	5	850	c.599A>G	c.(598-600)aAc>aGc	p.N200S	CYP19A1_uc001zza.4_Missense_Mutation_p.N200S|CYP19A1_uc001zzb.2_Missense_Mutation_p.N200S|CYP19A1_uc001zzd.3_Missense_Mutation_p.N200S|CYP19A1_uc010bey.1_Missense_Mutation_p.N200S	NM_031226	NP_112503	P11511	CP19A_HUMAN	Homo sapiens cytochrome P450, family 19, subfamily A, polypeptide 1 (CYP19A1), transcript variant 2, mRNA.	200					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	GAAGAGCGTGTTAGAGGTGTC	0.493000														53			25		0	0	1	0	0
QSOX2	169714	broad.mit.edu	37	9	139101119	139101119	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:139101119G>A	uc010nbi.2	-	11	1590	c.1552C>T	c.(1552-1554)Cat>Tat	p.H518Y		NM_181701	NP_859052	Q6ZRP7	QSOX2_HUMAN	Homo sapiens quiescin Q6 sulfhydryl oxidase 2 (QSOX2), mRNA.	518	ERV/ALR sulfhydryl oxidase.				cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		TCACTCAGATGGCCTAGGAAG	0.622000														73			54		0	0	1	0	0
HERC4	26091	broad.mit.edu	37	10	69750933	69750933	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:69750933G>A	uc001jng.4	-	11	1606	c.1295C>T	c.(1294-1296)tCc>tTc	p.S432F	HERC4_uc009xpq.3_5'UTR|HERC4_uc001jnf.4_Non-coding_Transcript|HERC4_uc001jnh.4_Missense_Mutation_p.S432F|HERC4_uc009xpr.3_Missense_Mutation_p.S432F|HERC4_uc001jni.4_Missense_Mutation_p.S176F|HERC4_uc021prr.1_5'Flank	NM_022079	NP_071362	Q5GLZ8	HERC4_HUMAN	Homo sapiens hect domain and RLD 4 (HERC4), transcript variant 1, mRNA.	432					cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						GCAACCAGAGGAAGAAAACGT	0.244000														30			15		0	0	1	0	0
FYB	2533	broad.mit.edu	37	5	39203057	39203057	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:39203057C>T	uc003jls.3	-	0	73	c.6G>A	c.(4-6)gcG>gcA	p.A2A	FYB_uc003jlt.3_Silent_p.A2A|FYB_uc003jlu.3_Silent_p.A2A|FYB_uc011cpl.2_Silent_p.A12A	NM_199335	NP_955367	O15117	FYB_HUMAN	Homo sapiens FYN binding protein (FYB), transcript variant 2, mRNA.	2					NLS-bearing substrate import into nucleus|T cell receptor signaling pathway|cell junction assembly|immune response|intracellular protein kinase cascade|protein phosphorylation	cytosol|nucleus	protein binding	p.A2V(1)		endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TGTTATATTTCGCCATGAGGG	0.433000														37			35		0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176992616	176992616	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:176992616G>A	uc001glc.3	-	6	1574	c.1362C>T	c.(1360-1362)tcC>tcT	p.S454S	ASTN1_uc001glb.1_Silent_p.S454S|ASTN1_uc001gld.1_Silent_p.S454S|ASTN1_uc009wwx.1_Silent_p.S454S|ASTN1_uc001gle.4_Non-coding_Transcript	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	454					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						AGGGTCCGCTGGAGTTCTGCT	0.647000														12			7		0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164906435	164906435	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:164906435G>A	uc003fej.4	-	1	2628	c.2184C>T	c.(2182-2184)tcC>tcT	p.S728S	SLITRK3_uc003fek.3_Silent_p.S728S|SLITRK3_uc021xgy.1_Silent_p.S728S	NM_014926	NP_055741	O94933	SLIK3_HUMAN	Homo sapiens SLIT and NTRK-like family, member 3 (SLITRK3), mRNA.	728						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TCTCTGGAGAGGAAAGAGTTG	0.572000										HNSCC(40;0.11)				26			14		0	0	1	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21355570	21355570	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:21355570C>T	uc001req.4	+	9	1385	c.1281C>T	c.(1279-1281)ttC>ttT	p.F427F		NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B1 (SLCO1B1), mRNA.	427					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	TATATTTTTTCATACTCTGTG	0.308000														29			16		0	0	1	0	0
MESP2	145873	broad.mit.edu	37	15	90320321	90320321	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:90320321C>T	uc002bon.3	+	0	733	c.733C>T	c.(733-735)Ccc>Tcc	p.P245S	MESP2_uc010uqa.2_Intron	NM_001039958	NP_001035047	Q0VG99	MESP2_HUMAN	Homo sapiens mesoderm posterior 2 homolog (mouse) (MESP2), mRNA.	245					Notch signaling pathway	nucleus	DNA binding			kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			CGACACGGATCCCTGGGCAAC	0.701000														10			7		0	0	1	0	0
HS3ST6	64711	broad.mit.edu	37	16	1961872	1961873	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:1961872_1961873CC>TT	uc002cnf.3	-	1	654_655	c.654_655GG>AA	c.(652-657)ggggag>ggAAag	p.E219K	TCRBV20S1_uc021tak.1_Intron	NM_001009606	NP_001009606	C9JH64	C9JH64_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 6 (HS3ST6), mRNA.	219										endometrium(2)|lung(2)	4						ACCAGACGCTCCCCGCTGACGA	0.663000														35			27		0	0	1	0	0
AJAP1	55966	broad.mit.edu	37	1	4772150	4772150	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:4772150G>A	uc001alm.1	+	1	601	c.220G>A	c.(220-222)Gtc>Atc	p.V74I	AJAP1_uc001aln.3_Missense_Mutation_p.V74I	NM_001042478	NP_061324	Q9UKB5	AJAP1_HUMAN	Homo sapiens adherens junctions associated protein 1 (AJAP1), transcript variant 2, mRNA.	74					cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane		p.V74F(2)		endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		GCCAGCGCGGGTCCCGGCCCC	0.761000														9			6		0	0	1	0	0
KCNT1	57582	broad.mit.edu	37	9	138670542	138670542	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:138670542G>A	uc011mdq.2	+	22	2677	c.2603G>A	c.(2602-2604)aGc>aAc	p.S868N	KCNT1_uc011mdr.2_Missense_Mutation_p.S695N|KCNT1_uc010nbf.3_Missense_Mutation_p.S823N|KCNT1_uc004cgo.1_Missense_Mutation_p.S617N	NM_020822	NP_065873	B7ZVY4	B7ZVY4_HUMAN	Homo sapiens potassium channel, subfamily T, member 1 (KCNT1), mRNA.	868						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		AGCCTGGACAGCCTGCTGCAG	0.652000														52			31		0	0	1	0	0
LOC440040	440040	broad.mit.edu	37	11	49597902	49597902	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:49597902C>T	uc010rhy.2	+	1	493	c.15C>T	c.(13-15)atC>atT	p.I5I	LOC440040_uc009ymb.3_Silent_p.I5I					Homo sapiens glutamate receptor, metabotropic 5 pseudogene (LOC440040), non-coding RNA.																		TGGGTGACATCATTATTGGAG	0.498000														34			18		0	0	1	0	0
APPBP2	10513	broad.mit.edu	37	17	58524960	58524960	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:58524960G>A	uc002iys.1	-	12	2028	c.1740C>T	c.(1738-1740)gtC>gtT	p.V580V	APPBP2_uc010ddl.1_Silent_p.V509V	NM_006380	NP_006371	Q92624	APBP2_HUMAN	Homo sapiens amyloid beta precursor protein (cytoplasmic tail) binding protein 2 (APPBP2), mRNA.	580					intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			TCGGTCCCTCGACATTCTGAG	0.488000														85			46		0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21775320	21775320	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:21775320G>A	uc003svc.3	+	46	7555	c.7524G>A	c.(7522-7524)gaG>gaA	p.E2508E		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	2508	AAA 3 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TGTTGCTTGAGAAAGGAAAAC	0.423000									Kartagener syndrome					7			10		0	0	1	0	0
SLC6A4	6532	broad.mit.edu	37	17	28545157	28545157	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:28545157G>A	uc002hey.4	-	4	1221	c.677C>T	c.(676-678)tCc>tTc	p.S226F		NM_001045	NP_001036	P31645	SC6A4_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 (SLC6A4), mRNA.	226					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	Rab GTPase binding|actin filament binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	TTCAGCAGGGGACGTGGAATG	0.547000														43			10		0	0	1	0	0
CDH13	1012	broad.mit.edu	37	16	83781803	83781803	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:83781803C>T	uc010vns.2	+	11	2034	c.1770C>T	c.(1768-1770)tcC>tcT	p.S590S	CDH13_uc002fgx.3_Silent_p.S543S|CDH13_uc010vnt.2_Silent_p.S289S|CDH13_uc010vnu.2_Silent_p.S504S	NM_001220488	NP_001207417	P55290	CAD13_HUMAN	Homo sapiens cadherin 13, H-cadherin (heart) (CDH13), transcript variant 2, mRNA.	543	Cadherin 5.				Rac protein signal transduction|Rho protein signal transduction|adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		ACCGTGAGTCCCCATTTGTCG	0.458000														89			46		0	0	1	0	0
MPP7	143098	broad.mit.edu	37	10	28345511	28345511	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:28345511C>T	uc001iua.1	-	17	1853	c.1449G>A	c.(1447-1449)gtG>gtA	p.V483V	MPP7_uc009xkz.1_Non-coding_Transcript|MPP7_uc001iub.1_Silent_p.V483V|MPP7_uc009xla.2_Silent_p.V483V|MPP7_uc010qdv.1_Non-coding_Transcript	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN	Homo sapiens membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) (MPP7), mRNA.	483	Guanylate kinase-like.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						TTATAAATATCACATAGGGCT	0.353000														44			22		0	0	1	0	0
CES3	23491	broad.mit.edu	37	16	66997130	66997130	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:66997130G>A	uc002eqt.3	+	1	210	c.131G>A	c.(130-132)cGa>cAa	p.R44Q	CES3_uc010cdz.3_Missense_Mutation_p.R44Q	NM_024922	NP_079198	Q6UWW8	EST3_HUMAN	Homo sapiens carboxylesterase 3 (CES3), transcript variant 1, mRNA.	44						endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		GGTCGTGTGCGAGGCCGGCAG	0.637000														55			37		0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13720046	13720046	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:13720046G>A	uc001rbt.2	-	11	2690	c.2511C>T	c.(2509-2511)atC>atT	p.I837I		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	837					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GGTGTTCGCAGATGAAGGTGA	0.507000														41			27		0	0	1	0	0
LOC646214	646214	broad.mit.edu	37	15	21937939	21937939	+	RNA	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:21937939C>T	uc010tzj.1	-	0		c.2801G>A								Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA.																		CTTTTTACTTCCTTTCTCTGT	0.418000														438			26		0	0	1	0	0
CSRP1	1465	broad.mit.edu	37	1	201465403	201465403	+	Missense_Mutation	SNP	C	G	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:201465403C>G	uc021phg.1	-	1	182	c.29G>C	c.(28-30)tGt>tCt	p.C10S	CSRP1_uc021phh.1_Missense_Mutation_p.C10S|CSRP1_uc001gws.3_Missense_Mutation_p.C10S|CSRP1_uc010ppr.2_Missense_Mutation_p.C10S|CSRP1_uc010pps.2_Missense_Mutation_p.C10S	NM_001193572	NP_004069	P21291	CSRP1_HUMAN	Homo sapiens cysteine and glycine-rich protein 1 (CSRP1), transcript variant 5, mRNA.	10	LIM zinc-binding 1.					nucleus	zinc ion binding			large_intestine(3)|lung(2)|ovary(1)	6						ACACACCCCACATTTCTTGCC	0.493000														92			38		0	0	1	0	0
PCDHB1	29930	broad.mit.edu	37	5	140433306	140433306	+	Missense_Mutation	SNP	C	T	T	rs143394864	byFrequency	TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:140433306C>T	uc003lik.1	+	0	2328	c.2251C>T	c.(2251-2253)Cgg>Tgg	p.R751W		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	Homo sapiens protocadherin beta 1 (PCDHB1), mRNA.	751					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATCCTTATCTCGGCCTTGTCC	0.408000														40			23		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9068444	9068444	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:9068444G>A	uc002mkp.3	-	2	19206	c.19002C>T	c.(19000-19002)atC>atT	p.I6334I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6336	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.I6334T(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGTGGAAGTGATAACTACTG	0.453000														42			13		0	0	1	0	0
ALK	238	broad.mit.edu	37	2	29519770	29519770	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:29519770G>A	uc002rmy.3	-	8	2753	c.1801C>T	c.(1801-1803)Ctc>Ttc	p.L601F		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA.	601	MAM 2.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	GACACATCGAGGAGAGGCAAC	0.532000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome					33			14		0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123512584	123512584	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:123512584G>A	uc003ego.3	-	3	387	c.105C>T	c.(103-105)ttC>ttT	p.F35F	MYLK_uc011bjw.2_Silent_p.F35F|MYLK_uc003egp.3_Silent_p.F35F|MYLK_uc003egq.3_Silent_p.F35F|MYLK_uc003egr.3_Silent_p.F35F|MYLK_uc003egs.3_5'UTR|MYLK_uc010hrs.1_Silent_p.F35F|MYLK_uc003egu.1_Silent_p.F45F	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	35	Ig-like C2-type 1.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GGGGCAAAATGAAAGCAGGGG	0.567000														19			13		0	0	1	0	0
XKR5	389610	broad.mit.edu	37	8	6679422	6679422	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:6679422G>A	uc022aqv.1	-	4	927	c.776C>T	c.(775-777)cCt>cTt	p.P259L	XKR5_uc003wqq.3_Missense_Mutation_p.P96L	NM_207411	NP_997294	Q6UX68	XKR5_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 5 (XKR5), mRNA.	259						integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		ATTTCTAGAAGGGCTGTCCCA	0.517000														2			7		0	0	1	0	0
FRMD8	83786	broad.mit.edu	37	11	65168331	65168331	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:65168331C>T	uc001odu.4	+	8	1256	c.1064C>T	c.(1063-1065)tCc>tTc	p.S355F	FRMD8_uc009yqj.3_Missense_Mutation_p.S299F|FRMD8_uc010rof.2_Missense_Mutation_p.S321F	NM_031904	NP_114110	Q9BZ67	FRMD8_HUMAN	Homo sapiens FERM domain containing 8 (FRMD8), mRNA.	355	FERM.					cytoskeleton	binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|urinary_tract(1)	17						AAGATCTACTCCAAGCAGGTA	0.652000														27			22		0	0	1	0	0
TBC1D3B	414059	broad.mit.edu	37	17	34499227	34499227	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:34499227G>A	uc002hky.2	-	6	634	c.484C>T	c.(484-486)Cga>Tga	p.R162*	DQ571391_uc002hla.1_5'Flank|DQ593188_uc021tvb.1_5'Flank|DQ586142_uc002hlc.3_5'Flank|DQ575686_uc021tvc.1_5'Flank|DQ580080_uc021tvd.1_5'Flank	NM_001001417	NP_001001417	A6NDS4	TBC3B_HUMAN	Homo sapiens TBC1 domain family, member 3B (TBC1D3B), mRNA.	162	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			endometrium(2)|lung(3)|pancreas(1)	6		Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GTTCCGTATCGATCCCTGAAG	0.562000														583			33		0	0	1	0	0
OR2T12	127064	broad.mit.edu	37	1	248458620	248458620	+	Missense_Mutation	SNP	A	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:248458620A>T	uc010pzj.2	-	0	261	c.261T>A	c.(259-261)aaT>aaA	p.N87K		NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 12 (OR2T12), mRNA.	87					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			AGATGGCCTTATTTCCGGTCA	0.562000														69			10		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179642656	179642656	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:179642656G>A	uc021vsy.1	-	24	4480	c.4255C>T	c.(4255-4257)Cct>Tct	p.P1419S	TTN_uc021vsz.1_Missense_Mutation_p.P1373S|TTN_uc021vta.1_Missense_Mutation_p.P1373S|TTN_uc021vtb.1_Missense_Mutation_p.P1373S|TTN_uc002unb.2_Missense_Mutation_p.P1419S|AK123298_uc002unc.1_Non-coding_Transcript	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1419	ZIS5.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCCGTGCAGGAGACATGCGT	0.498000														21			16		0	0	1	0	0
ATXN7	6314	broad.mit.edu	37	3	63965651	63965651	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:63965651C>T	uc003dlv.3	+	5	1113	c.560C>T	c.(559-561)tCc>tTc	p.S187F	ATXN7_uc003dlw.4_Missense_Mutation_p.S187F|ATXN7_uc021wzy.1_Missense_Mutation_p.S187F|ATXN7_uc010hnw.3_Missense_Mutation_p.S42F|ATXN7_uc011bfn.2_Missense_Mutation_p.S42F	NM_000333	NP_000324	O15265	ATX7_HUMAN	Homo sapiens ataxin 7 (ATXN7), transcript variant SCA7a, mRNA.	187	Ser-rich.				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		TCAGTATTTTCCTTCTTCCCT	0.458000														40			20		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141116507	141116507	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:141116507G>A	uc002tvj.1	-	72	12112	c.11140C>T	c.(11140-11142)Ctt>Ttt	p.L3714F		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3714	LDL-receptor class A 31.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.L3714I(2)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GATGGACAAAGAAATTTGACT	0.368000										TSP Lung(27;0.18)				39			16		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55581809	55581809	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:55581809C>T	uc010qhy.1	-	34	6093	c.5698G>A	c.(5698-5700)Gaa>Aaa	p.E1900K	PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_Intron|PCDH15_uc021pqw.1_Intron|PCDH15_uc010qht.2_Intron|PCDH15_uc021pqx.1_Intron|PCDH15_uc001jjv.1_Missense_Mutation_p.E747K|PCDH15_uc021pqy.1_Missense_Mutation_p.E1895K|PCDH15_uc021pqz.1_Missense_Mutation_p.E1870K|PCDH15_uc010qhv.1_Missense_Mutation_p.E1890K|PCDH15_uc010qhw.1_Missense_Mutation_p.E1853K|PCDH15_uc010qhx.1_Missense_Mutation_p.E1824K|PCDH15_uc010qhz.1_Missense_Mutation_p.E1895K|PCDH15_uc010qia.1_Missense_Mutation_p.E1873K|PCDH15_uc001jju.1_Missense_Mutation_p.E1893K|PCDH15_uc010qib.1_Missense_Mutation_p.E1870K	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1893					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ACTGATTTTTCAAGTTCTGCT	0.373000										HNSCC(58;0.16)				71			42		0	0	1	0	0
PITPNM1	9600	broad.mit.edu	37	11	67259723	67259723	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:67259723C>T	uc001olx.3	-	22	3705	c.3516G>A	c.(3514-3516)gcG>gcA	p.A1172A	PITPNM1_uc001olw.3_Silent_p.A454A|PITPNM1_uc001oly.3_Silent_p.A1172A|PITPNM1_uc001olz.3_Silent_p.A1171A	NM_004910	NP_004901	O00562	PITM1_HUMAN	Homo sapiens phosphatidylinositol transfer protein, membrane-associated 1 (PITPNM1), transcript variant 1, mRNA.	1172					brain development|lipid metabolic process|phototransduction|protein transport	Golgi cisterna membrane|cleavage furrow|endoplasmic reticulum membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						AGTGCGAGCCCGCTTCCAGCT	0.672000														10			8		0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10426639	10426639	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:10426639C>T	uc010coi.3	-	37	5691	c.5563G>A	c.(5563-5565)Gaa>Aaa	p.E1855K	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.E1855K|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1855					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TAAGTGAGTTCCTTCACTCGC	0.458000														70			22		0	0	1	0	0
PLA2G6	8398	broad.mit.edu	37	22	38525521	38525521	+	Missense_Mutation	SNP	C	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr22:38525521C>A	uc003auy.1	-	7	1262	c.1126G>T	c.(1126-1128)Gtg>Ttg	p.V376L	PLA2G6_uc003auz.1_Missense_Mutation_p.V376L|PLA2G6_uc003ava.1_Missense_Mutation_p.V376L|PLA2G6_uc003avb.2_Missense_Mutation_p.V376L|PLA2G6_uc010gxk.1_Non-coding_Transcript|PLA2G6_uc011ano.1_Missense_Mutation_p.V341L	NM_003560	NP_003551	O60733	PA2G6_HUMAN	Homo sapiens phospholipase A2, group VI (cytosolic, calcium-independent) (PLA2G6), transcript variant 1, mRNA.	376					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	GGGGTGTCCACTTCTGCTCCG	0.542000														48			64		6.47592e-44	6.60384e-44	1	1	0
EDNRB	1910	broad.mit.edu	37	13	78493599	78493599	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr13:78493599G>A	uc001vkp.1	-	0	305	c.152C>T	c.(151-153)gCt>gTt	p.A51V	BX647243_uc001vks.3_5'Flank|EDNRB_uc001vkq.1_Intron|EDNRB_uc001vko.2_5'Flank|EDNRB_uc010aez.1_5'Flank	NM_001201397	NP_001188326	P24530	EDNRB_HUMAN	Homo sapiens endothelin receptor type B (EDNRB), transcript variant 4, mRNA.	0					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding	p.K51E(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	GCGGAACCCAGCTGGGTTCCA	0.582000											OREG0022452	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		21			13		0	0	1	0	0
VWCE	220001	broad.mit.edu	37	11	61034971	61034972	+	Missense_Mutation	DNP	GG	AA	AA	rs144830880	byFrequency	TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:61034971_61034972GG>AA	uc001nra.3	-	15	2206_2207	c.1927_1928CC>TT	c.(1927-1929)ccg>TTg	p.P643L	VWCE_uc001nrb.3_Non-coding_Transcript	NM_152718	NP_689931	Q96DN2	VWCE_HUMAN	Homo sapiens von Willebrand factor C and EGF domains (VWCE), mRNA.	643	VWFC 5.					extracellular region	calcium ion binding	p.P643P(1)		biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						CAGCACAGACGGGAAGGTCTCG	0.594000														60			27		0	0	1	0	0
GIMAP7	168537	broad.mit.edu	37	7	150217285	150217285	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:150217285G>A	uc003whk.3	+	1	353	c.223G>A	c.(223-225)Gac>Aac	p.D75N	GIMAP7_uc022apu.1_Missense_Mutation_p.D75N	NM_153236	NP_694968	Q8NHV1	GIMA7_HUMAN	Homo sapiens GTPase, IMAP family member 7 (GIMAP7), mRNA.	75							GTP binding			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGAGAGCCTGGACACCACCTG	0.557000														18			20		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24922426	24922426	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:24922426C>T	uc001ywo.3	+	0	1886	c.1412C>T	c.(1411-1413)cCc>cTc	p.P471L		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	471	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		GACCTTGTTCCCATTTTGGGT	0.488000														80			59		0	0	1	0	0
MMRN2	79812	broad.mit.edu	37	10	88717214	88717214	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:88717214G>A	uc001kea.3	-	0	212	c.85C>T	c.(85-87)Ctc>Ttc	p.L29F	MMRN2_uc010qmn.2_5'UTR|MMRN2_uc009xtb.2_Missense_Mutation_p.L29F|SNCG_uc001keb.2_5'Flank	NM_024756	NP_079032	Q9H8L6	MMRN2_HUMAN	Homo sapiens multimerin 2 (MMRN2), mRNA.	29						extracellular space				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						AGATCAGAGAGGCTAGTACTG	0.652000														41			25		0	0	1	0	0
SLC36A2	153201	broad.mit.edu	37	5	150696397	150696397	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:150696397G>A	uc003lty.3	-	9	1563	c.1433C>T	c.(1432-1434)tCc>tTc	p.S478F	SLC36A2_uc003ltz.3_Non-coding_Transcript|SLC36A2_uc003lua.3_Missense_Mutation_p.S280F	NM_181776	NP_861441	Q495M3	S36A2_HUMAN	Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 2 (SLC36A2), mRNA.	478					cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAAAGTGGTGGAGTTGGAAAA	0.493000														45			21		0	0	1	0	0
KCNK10	54207	broad.mit.edu	37	14	88729796	88729796	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:88729796G>A	uc001xwm.3	-	1	274	c.152C>T	c.(151-153)tCc>tTc	p.S51F	KCNK10_uc001xwn.3_Missense_Mutation_p.S51F|KCNK10_uc001xwo.3_Missense_Mutation_p.S46F	NM_138318	NP_612191	P57789	KCNKA_HUMAN	Homo sapiens potassium channel, subfamily K, member 10 (KCNK10), transcript variant 3, mRNA.	46					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity	p.S46F(1)|p.V51E(1)|p.S51F(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						GGCTCGGGAGGAAATGGACAG	0.642000														84			38		0	0	1	0	0
FOXP1	27086	broad.mit.edu	37	3	71015054	71015054	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:71015054G>A	uc003dol.3	-	15	2199	c.1876C>T	c.(1876-1878)Cct>Tct	p.P626S	FOXP1_uc003dom.3_Missense_Mutation_p.P550S|FOXP1_uc003don.3_Non-coding_Transcript|FOXP1_uc021xan.1_Missense_Mutation_p.P626S|FOXP1_uc003doo.3_Missense_Mutation_p.P625S|FOXP1_uc003dop.3_Missense_Mutation_p.P626S|FOXP1_uc021xao.1_Missense_Mutation_p.P642S|FOXP1_uc003doq.1_Intron|FOXP1_uc003doi.3_Missense_Mutation_p.P526S|FOXP1_uc003dok.3_Missense_Mutation_p.P552S|FOXP1_uc003doj.3_Missense_Mutation_p.P628S	NM_001244814	NP_001231743	Q9H334	FOXP1_HUMAN	Homo sapiens forkhead box P1 (FOXP1), transcript variant 7, mRNA.	626					cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		GCTTGCATAGGAGATCTGCCT	0.547000			T	PAX5	ALL									151			84		0	0	1	0	0
MST1P2	11209	broad.mit.edu	37	1	16973874	16973874	+	RNA	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:16973874G>A	uc009vow.2	+	4		c.684G>A			CROCCP2_uc001azg.1_5'Flank|CROCCP2_uc001azi.1_5'Flank|MST1P2_uc010ocg.1_Non-coding_Transcript|MST1P2_uc010och.2_Intron|MST1P2_uc010oci.1_Non-coding_Transcript|MST1P2_uc001azk.2_Intron|MST1P2_uc009vox.3_5'Flank|MST1P2_uc001azm.4_5'Flank					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		GGACTCCAGGGGCAGGGCTCC	0.672000														13			3		0	0	1	0	0
GLIPR1	11010	broad.mit.edu	37	12	75884292	75884292	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:75884292G>A	uc001sxs.3	+	2	675	c.527G>A	c.(526-528)gGa>gAa	p.G176E	GLIPR1_uc009zsb.1_Missense_Mutation_p.D200N	NM_006851	NP_006842	P48060	GLIP1_HUMAN	Homo sapiens GLI pathogenesis-related 1 (GLIPR1), mRNA.	176					cellular lipid metabolic process	extracellular region|integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	14						TGCAACTACGGACCAGGGTAA	0.438000														16			18		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138421024	138421024	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:138421024G>A	uc002tva.1	+	24	4440	c.4440G>A	c.(4438-4440)atG>atA	p.M1480I	THSD7B_uc010zbj.1_Non-coding_Transcript	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		ATTACTGCATGAAAGTACCAG	0.358000														7			3		0	0	1	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414902	14414902	+	RNA	SNP	G	A	A	rs2821609	by1000genomes	TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr21:14414902G>A	uc002yiy.3	+	1		c.339G>A			ANKRD30BP2_uc002yja.4_Non-coding_Transcript					Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA.																		CCAGCTTGACGTCCTTGATGG	0.443000														40			3		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141299440	141299440	+	Missense_Mutation	SNP	T	C	C			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:141299440T>C	uc002tvj.1	-	43	8267	c.7295A>G	c.(7294-7296)aAc>aGc	p.N2432S		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	2432					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGTGTACTTGTTGGACCGCAG	0.428000										TSP Lung(27;0.18)				71			35		0	0	1	0	0
SIGLEC5	8778	broad.mit.edu	37	19	52132655	52132655	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:52132655C>T	uc002pxe.3	-	2	795	c.656G>A	c.(655-657)gGa>gAa	p.G219E		NM_003830	NP_003821	O15389	SIGL5_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 5 (SIGLEC5), mRNA.	219	Ig-like C2-type 1.				cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		CACCTGAGCTCCTTGGCGTTT	0.632000														63			30		0	0	1	0	0
TLL2	7093	broad.mit.edu	37	10	98155082	98155082	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:98155082C>T	uc001kml.2	-	12	1829	c.1588G>A	c.(1588-1590)Gaa>Aaa	p.E530K	TLL2_uc009xvf.2_Missense_Mutation_p.E508K	NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN	Homo sapiens tolloid-like 2 (TLL2), mRNA.	530	CUB 2.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.T529T(1)		NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		GCACTCTCTTCCGTGGGGCCA	0.527000														42			28		0	0	1	0	0
ZIM3	114026	broad.mit.edu	37	19	57648286	57648286	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:57648286C>T	uc002qnz.1	-	3	582	c.196G>A	c.(196-198)Gag>Aag	p.E66K		NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN	Homo sapiens zinc finger, imprinted 3 (ZIM3), mRNA.	66	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AACCATGGCTCCTTTCCTTGT	0.527000														74			29		0	0	1	0	0
SERTAD3	29946	broad.mit.edu	37	19	40947780	40947780	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:40947780G>A	uc002onu.4	-	1	486	c.208C>T	c.(208-210)Cgc>Tgc	p.R70C	SERTAD3_uc002onv.4_Missense_Mutation_p.R70C|SERTAD3_uc021uut.1_Missense_Mutation_p.R70C	NM_013368	NP_976219	Q9UJW9	SRTD3_HUMAN	Homo sapiens SERTA domain containing 3 (SERTAD3), transcript variant 1, mRNA.	70	SERTA.				negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			kidney(1)|large_intestine(4)|lung(2)	7			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGAGCCAGGCGAAGTGCAGCC	0.657000														13			5		0	0	1	0	0
OR6C75	390323	broad.mit.edu	37	12	55759074	55759074	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:55759074C>T	uc010spk.2	+	0	180	c.180C>T	c.(178-180)ttC>ttT	p.F60F		NM_001005497	NP_001005497	A6NL08	O6C75_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 75 (OR6C75), mRNA.	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						TGTATTTCTTCCTTCGGAACT	0.418000														83			48		0	0	1	0	0
DSG1	1828	broad.mit.edu	37	18	28916477	28916477	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr18:28916477C>T	uc002kwp.3	+	8	1378	c.1166C>T	c.(1165-1167)tCa>tTa	p.S389L		NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	389	Cadherin 4.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			CGTCCAGGTTCAAAGACATAT	0.383000														45			20		0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	166963269	166963269	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:166963269G>A	uc003irh.2	+	10	1999	c.1352G>A	c.(1351-1353)gGa>gAa	p.G451E	TLL1_uc011cjn.2_Missense_Mutation_p.G451E|TLL1_uc011cjo.2_Missense_Mutation_p.G275E	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	451	CUB 1.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		AATTGGGTAGGAAAAGGCTTT	0.368000														57			31		0	0	1	0	0
OSMR	9180	broad.mit.edu	37	5	38869168	38869168	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:38869168C>T	uc003jln.2	+	1	424	c.22C>T	c.(22-24)Cag>Tag	p.Q8*	OSMR_uc003jlm.2_Nonsense_Mutation_p.Q8*	NM_003999	NP_003990	Q99650	OSMR_HUMAN	Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.	8					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					TGCAGTCTTTCAGACAACATT	0.343000														49			44		0	0	1	0	0
OR51F2	119694	broad.mit.edu	37	11	4843639	4843639	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:4843639G>A	uc010qyn.2	+	0	1024	c.1024G>A	c.(1024-1026)Gaa>Aaa	p.E342K		NM_001004753	NP_001004753	Q8NH61	O51F2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily F, member 2 (OR51F2), mRNA.	342					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGCCATTTATGAATAAGTGCT	0.348000														25			7		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13894920	13894920	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:13894920G>A	uc003jfd.2	-	15	2312	c.2270C>T	c.(2269-2271)gCt>gTt	p.A757V		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	757	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTGATATTCAGCTAGCATCAT	0.378000									Kartagener syndrome					93			62		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179433331	179433331	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:179433331C>T	uc021vsy.1	-	274	70049	c.69824G>A	c.(69823-69825)aGa>aAa	p.R23275K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R16970K|TTN_uc021vta.1_Missense_Mutation_p.R16903K|TTN_uc021vtb.1_Missense_Mutation_p.R16778K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	24202	Fibronectin type-III 69.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACATTGATTCTTGTGGTCTG	0.423000														72			35		0	0	1	0	0
ALPK3	57538	broad.mit.edu	37	15	85383917	85383917	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:85383917C>T	uc002ble.3	+	4	2180	c.2013C>T	c.(2011-2013)tcC>tcT	p.S671S		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	Homo sapiens alpha-kinase 3 (ALPK3), mRNA.	671					heart development	nucleus	ATP binding|protein serine/threonine kinase activity	p.H670D(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CCACACACTCCTTGACCCCCC	0.627000														34			14		0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12649325	12649325	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:12649325C>T	uc002gno.2	+	8	1360	c.1061C>T	c.(1060-1062)tCt>tTt	p.S354F	MYOCD_uc002gnn.2_Missense_Mutation_p.S354F|MYOCD_uc002gnp.1_Missense_Mutation_p.S258F|MYOCD_uc002gnq.2_Missense_Mutation_p.S73F	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	354					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		AACAGTTTTTCTGGACAAACT	0.408000														78			37		0	0	1	0	0
HEYL	26508	broad.mit.edu	37	1	40092319	40092319	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:40092319G>A	uc001cdp.3	-	4	898	c.847C>T	c.(847-849)Ccc>Tcc	p.P283S	HEYL_uc010oiw.2_Missense_Mutation_p.P255S	NM_014571	NP_055386	Q9NQ87	HEYL_HUMAN	Homo sapiens hairy/enhancer-of-split related with YRPW motif-like (HEYL), mRNA.	283	Pro-rich.				Notch signaling pathway|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.1e-18)|Epithelial(16;2.77e-17)|all cancers(16;5.64e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GGACCAGGGGGTGTTGGGGAG	0.682000														5			3		0	0	1	0	0
CD180	4064	broad.mit.edu	37	5	66480342	66480342	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:66480342C>T	uc003juy.2	-	2	477	c.329G>A	c.(328-330)gGa>gAa	p.G110E		NM_005582	NP_005573	Q99467	CD180_HUMAN	Homo sapiens CD180 molecule (CD180), mRNA.	110					inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		CAGGGGATTTCCAGTTAACAC	0.368000														71			37		0	0	1	0	0
PRB2	653247	broad.mit.edu	37	12	11546771	11546771	+	Missense_Mutation	SNP	G	C	C			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:11546771G>C	uc010shk.1	-	2	276	c.241C>G	c.(241-243)Cca>Gca	p.P81A		NM_006248	NP_006239			Homo sapiens proline-rich protein BstNI subfamily 2 (PRB2), mRNA.									p.P81A(1)|p.P60A(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TGTGGGGGTGGTCCTTGTGGC	0.612000														240			8		0	0	1	0	0
OR4K1	79544	broad.mit.edu	37	14	20404428	20404428	+	Silent	SNP	G	A	A	rs149331677	byFrequency	TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:20404428G>A	uc001vwj.2	+	0	662	c.603G>A	c.(601-603)acG>acA	p.T201T		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 1 (OR4K1), mRNA.	201					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TGACCCTAACGAACAGTGGCC	0.448000														57			21		0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49694454	49694454	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:49694454C>T	uc003cxe.4	+	4	7579	c.7465C>T	c.(7465-7467)Ccc>Tcc	p.P2489S		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	2489					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCGAGGGCCTCCCCTAGCGGC	0.642000														20			8		0	0	1	0	0
HABP2	3026	broad.mit.edu	37	10	115343993	115343993	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:115343993C>T	uc001lai.4	+	10	1427	c.1324C>T	c.(1324-1326)Ccc>Tcc	p.P442S	HABP2_uc021pyr.1_Missense_Mutation_p.P416S|HABP2_uc010qrz.1_Non-coding_Transcript	NM_004132	NP_001171131	Q14520	HABP2_HUMAN	Homo sapiens hyaluronan binding protein 2 (HABP2), transcript variant 1, mRNA.	442	Peptidase S1.				cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)		TGGGTCCTTTCCCTCTGGGAG	0.512000														37			14		0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166245527	166245527	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:166245527C>T	uc002udc.3	+	26	5501	c.5211C>T	c.(5209-5211)caC>caT	p.H1737H	SCN2A_uc002udd.3_Silent_p.H1737H|SCN2A_uc002ude.3_Silent_p.H1737H|SCN2A_uc021vry.1_Silent_p.H237H	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	1737					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	ACAAAGATCACCCTGGAAGCT	0.453000														119			88		0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	100126624	100126624	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:100126624C>T	uc001pga.3	+	16	2642	c.2138C>T	c.(2137-2139)tCc>tTc	p.S713F	CNTN5_uc001pfz.3_Missense_Mutation_p.S713F|CNTN5_uc021qpb.1_Missense_Mutation_p.S713F|CNTN5_uc021qpc.1_Missense_Mutation_p.S639F|CNTN5_uc010ruk.2_5'UTR	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	713	Fibronectin type-III 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AGCCCATTTTCCCTGGGCTGG	0.493000														35			21		0	0	1	0	0
NBL1	4681	broad.mit.edu	37	1	19981608	19981608	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:19981608C>T	uc001bcj.2	+	1	273	c.190C>T	c.(190-192)Cca>Tca	p.P64S	NBL1_uc021ohw.1_Missense_Mutation_p.P43S|NBL1_uc009vpl.2_Missense_Mutation_p.P29S|NBL1_uc009vpm.2_Missense_Mutation_p.P29S|NBL1_uc001bck.2_Missense_Mutation_p.P29S|NBL1_uc021ohy.1_Missense_Mutation_p.P28S|NBL1_uc021ohz.1_Missense_Mutation_p.P63S	NM_182744	NP_001191018	P41271	NBL1_HUMAN	Homo sapiens neuroblastoma, suppression of tumorigenicity 1 (NBL1), transcript variant 1, mRNA.	28	CTCK.					extracellular region				lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00043)|Ovarian(437;0.00373)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.9e-05)|Kidney(64;0.000173)|GBM - Glioblastoma multiforme(114;0.0012)|KIRC - Kidney renal clear cell carcinoma(64;0.0026)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GGCACTGTTCCCAGATAAGAG	0.622000														14			9		0	0	1	0	0
PKP4	8502	broad.mit.edu	37	2	159481558	159481559	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:159481558_159481559CC>TT	uc002tzv.3	+	6	1032_1033	c.772_773CC>TT	c.(772-774)ccc>TTc	p.P258F	PKP4_uc002tzt.1_Missense_Mutation_p.P110F|PKP4_uc002tzu.3_Missense_Mutation_p.P258F|PKP4_uc002tzw.3_Missense_Mutation_p.P258F|PKP4_uc002tzx.3_5'UTR|PKP4_uc002tzy.1_5'UTR|PKP4_uc002tzz.1_Missense_Mutation_p.P256F|PKP4_uc002uaa.3_Missense_Mutation_p.P110F	NM_003628	NP_003619	Q99569	PKP4_HUMAN	Homo sapiens plakophilin 4 (PKP4), transcript variant 1, mRNA.	258					cell adhesion	desmosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						ACCTCTGAACCCCAGTGCATAT	0.579000										HNSCC(62;0.18)				53			15		0	0	1	0	0
TRPC4	7223	broad.mit.edu	37	13	38266349	38266349	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr13:38266349G>A	uc010abx.3	-	3	1256	c.1021C>T	c.(1021-1023)Cct>Tct	p.P341S	TRPC4_uc010abv.3_Intron|TRPC4_uc001uwt.3_Missense_Mutation_p.P341S|TRPC4_uc001uws.3_Missense_Mutation_p.P341S|TRPC4_uc010tey.2_Missense_Mutation_p.P341S|TRPC4_uc010abw.3_Missense_Mutation_p.P168S|TRPC4_uc010aby.3_Missense_Mutation_p.P341S	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.	341					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		GAGAAGACAGGAAAAAGAAGT	0.473000														14			14		0	0	1	0	0
NR2F2	7026	broad.mit.edu	37	15	96877367	96877367	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:96877367G>A	uc010uri.2	+	1	1729	c.505G>A	c.(505-507)Ggg>Agg	p.G169R	NR2F2_uc002btp.3_Missense_Mutation_p.G36R|NR2F2_uc010urj.2_Missense_Mutation_p.G16R|NR2F2_uc010urk.2_Missense_Mutation_p.G16R	NM_021005	NP_001138629	P24468	COT2_HUMAN	Homo sapiens nuclear receptor subfamily 2, group F, member 2 (NR2F2), transcript variant 1, mRNA.	169	Interaction with ZFPM2 (By similarity).				lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding	p.G169W(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			GCTGACCAACGGGGATCCCCT	0.637000														133			64		0	0	1	0	0
KIAA0319	9856	broad.mit.edu	37	6	24596626	24596626	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:24596626C>T	uc011djo.2	-	2	776	c.276G>A	c.(274-276)aaG>aaA	p.K92K	KIAA0319_uc011djp.2_Silent_p.K47K|KIAA0319_uc003neh.1_Silent_p.K92K|KIAA0319_uc011djq.1_Silent_p.K83K|KIAA0319_uc011djr.1_Silent_p.K92K	NM_001168375	NP_001161848	Q5VV43	K0319_HUMAN	Homo sapiens KIAA0319 (KIAA0319), transcript variant 2, mRNA.	92	MANSC.				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						TGGGGCCCATCTTCTTGGGCT	0.602000														74			23		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179597727	179597727	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:179597727C>T	uc021vsy.1	-	51	12669	c.12444G>A	c.(12442-12444)aaG>aaA	p.K4148K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.K809K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5075							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTTGCCATCCTTAAACCAGG	0.478000														20			6		0	0	1	0	0
CWH43	80157	broad.mit.edu	37	4	49063906	49063906	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:49063906G>A	uc003gyv.3	+	15	2281	c.2099G>A	c.(2098-2100)tGa>tAa	p.*700*	CWH43_uc011bzl.2_Silent_p.*673*	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN	Homo sapiens cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) (CWH43), mRNA.	0					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						TACTTTTTATGAAACATTTAA	0.254000														22			13		0	0	1	0	0
PABPC3	5042	broad.mit.edu	37	13	25670468	25670468	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr13:25670468G>A	uc001upy.3	+	0	193	c.132G>A	c.(130-132)agG>agA	p.R44R		NM_030979	NP_112241	Q9H361	PABP3_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 3 (PABPC3), mRNA.	44	RRM 1.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		GGATCTGCAGGGACTTGATCA	0.572000														70			18		0	0	1	0	0
C9orf131	138724	broad.mit.edu	37	9	35045502	35045502	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:35045502G>A	uc003zvw.3	+	1	2905	c.2876G>A	c.(2875-2877)gGg>gAg	p.G959E	C9orf131_uc003zvu.3_Missense_Mutation_p.G911E|C9orf131_uc003zvv.3_Missense_Mutation_p.G886E|C9orf131_uc003zvx.3_Missense_Mutation_p.G924E	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	Homo sapiens chromosome 9 open reading frame 131 (C9orf131), transcript variant 1, mRNA.	959										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			CATAGAAGAGGGACTGCAAGG	0.537000														69			36		0	0	1	0	0
RNF185	91445	broad.mit.edu	37	22	31597595	31597595	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr22:31597595C>T	uc003akb.3	+	5	675	c.475C>T	c.(475-477)Cct>Tct	p.P159S	RNF185_uc010gwh.3_Non-coding_Transcript|RNF185_uc011alm.2_Missense_Mutation_p.P97S|RNF185_uc003akc.3_Missense_Mutation_p.P97S|RNF185_uc003ake.3_Missense_Mutation_p.P103S	NM_152267	NP_689480	Q96GF1	RN185_HUMAN	Homo sapiens ring finger protein 185 (RNF185), transcript variant 1, mRNA.	159						integral to membrane	zinc ion binding			NS(1)|large_intestine(1)|lung(3)|skin(1)	6						TGGGCGGCCTCCTCCAGGTAA	0.388000														68			18		0	0	1	0	0
STAU1	6780	broad.mit.edu	37	20	47770481	47770481	+	Silent	SNP	A	G	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr20:47770481A>G	uc002xud.3	-	3	744	c.333T>C	c.(331-333)gcT>gcC	p.A111A	STAU1_uc002xua.3_Silent_p.A30A|STAU1_uc002xub.3_Silent_p.A30A|STAU1_uc002xuc.3_Silent_p.A30A|STAU1_uc002xue.3_Silent_p.A30A|STAU1_uc002xuf.3_Silent_p.A30A|STAU1_uc002xug.3_Silent_p.A111A	NM_017453	NP_059348	O95793	STAU1_HUMAN	Homo sapiens staufen, RNA binding protein, homolog 1 (Drosophila) (STAU1), transcript variant T3, mRNA.	111	DRBM 1.					microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			TCGGGGGATAAGCACCTCCTC	0.388000														23			9		0	0	1	0	0
REG1A	5967	broad.mit.edu	37	2	79349983	79349983	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:79349983G>A	uc010ysd.2	+	3	405	c.338G>A	c.(337-339)tGg>tAg	p.W113*	REG1A_uc002snz.3_Nonsense_Mutation_p.W113*	NM_002909	NP_002900	P05451	REG1A_HUMAN	Homo sapiens regenerating islet-derived 1 alpha (REG1A), mRNA.	113	C-type lectin.				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						CGCTGGCACTGGAGCAGTGGG	0.557000														84			33		0	0	1	0	0
PKN3	29941	broad.mit.edu	37	9	131469542	131469542	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:131469542C>T	uc004bvw.3	+	5	1086	c.693C>T	c.(691-693)ctC>ctT	p.L231L	PKN3_uc010myh.3_Silent_p.L231L|PKN3_uc022bom.1_Non-coding_Transcript	NM_013355	NP_037487	Q6P5Z2	PKN3_HUMAN	Homo sapiens protein kinase N3 (PKN3), mRNA.	231					signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						AACTGGACCTCCTGCGCCTGG	0.652000														13			4		0	0	1	0	0
OR14J1	442191	broad.mit.edu	37	6	29274625	29274625	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:29274625C>T	uc011dln.2	+	0	159	c.159C>T	c.(157-159)ctC>ctT	p.L53L		NM_030946	NP_112208	Q9UGF5	O14J1_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily J, member 1 (OR14J1), mRNA.	53					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						ACCGTCGTCTCCATTCCCCCA	0.468000														27			159		0	0	1	0	0
OR52M1	119772	broad.mit.edu	37	11	4567157	4567157	+	Missense_Mutation	SNP	C	T	T	rs145064459	by1000genomes	TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:4567157C>T	uc010qyf.2	+	0	737	c.737C>T	c.(736-738)tCt>tTt	p.S246F		NM_001004137	NP_001004137	Q8NGK5	O52M1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily M, member 1 (OR52M1), mRNA.	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACATGCGCTTCTCACCTCTGT	0.517000														65			29		0	0	1	0	0
GOT2	2806	broad.mit.edu	37	16	58749978	58749978	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:58749978G>A	uc002eof.1	-	7	1073	c.959C>T	c.(958-960)cCc>cTc	p.P320L	GOT2_uc010vim.1_Missense_Mutation_p.P277L	NM_002080	NP_002071	P00505	AATM_HUMAN	Homo sapiens glutamic-oxaloacetic transaminase 2, mitochondrial (aspartate aminotransferase 2) (GOT2), nuclear gene encoding mitochondrial protein, mRNA.	320					aspartate catabolic process|fatty acid transport|gluconeogenesis|response to ethanol	mitochondrial matrix|plasma membrane	L-aspartate:2-oxoglutarate aminotransferase activity|protein binding|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1)	22					L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CCCATTGAGGGGAGGGTTGGA	0.517000														30			28		0	0	1	0	0
KCNAB1	7881	broad.mit.edu	37	3	155838626	155838626	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:155838626G>A	uc003far.2	+	0	290	c.226G>A	c.(226-228)Gac>Aac	p.D76N	KCNAB1_uc011bon.1_Missense_Mutation_p.D76N	NM_172160	NP_751892	Q14722	KCAB1_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, beta member 1 (KCNAB1), transcript variant 1, mRNA.	76						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			AAAGCTCTGCGACCTGTCCAG	0.617000														24			19		0	0	1	0	0
LDB2	9079	broad.mit.edu	37	4	16510269	16510269	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:16510269C>T	uc003goz.3	-	6	1096	c.780G>A	c.(778-780)agG>agA	p.R260R	LDB2_uc003gpa.3_Silent_p.R260R|LDB2_uc011bxh.2_Silent_p.R232R|LDB2_uc003gpb.3_Silent_p.R260R|LDB2_uc010iee.3_Silent_p.R260R|LDB2_uc011bxi.2_Silent_p.R136R	NM_001290	NP_001281	O43679	LDB2_HUMAN	Homo sapiens LIM domain binding 2 (LDB2), transcript variant 1, mRNA.	260							LIM domain binding|transcription cofactor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						TGGAATTTTTCCTTTTTCTCC	0.488000														32			14		0	0	1	0	0
FAM179A	165186	broad.mit.edu	37	2	29225431	29225431	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:29225431G>A	uc010ezl.3	+	4	808	c.457G>A	c.(457-459)Gga>Aga	p.G153R	FAM179A_uc010ymm.2_Missense_Mutation_p.G153R	NM_199280	NP_954974	Q6ZUX3	F179A_HUMAN	Homo sapiens family with sequence similarity 179, member A (FAM179A), mRNA.	153							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						AGGCCCCCAAGGAGTTCCCCT	0.617000														18			11		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168103124	168103124	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:168103124G>A	uc002udx.3	+	8	5311	c.5222G>A	c.(5221-5223)gGa>gAa	p.G1741E	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.G1566E|XIRP2_uc010fpq.3_Missense_Mutation_p.G1519E|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1566					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TCTGAGAGAGGAAATGTTCAG	0.368000														28			16		0	0	1	0	0
RNF112	7732	broad.mit.edu	37	17	19317435	19317435	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:19317435G>A	uc010vyw.2	+	6	1084	c.853G>A	c.(853-855)Gat>Aat	p.D285N	RNF112_uc021tsa.1_Non-coding_Transcript|RNF112_uc010vyx.1_Missense_Mutation_p.D168N	NM_007148	NP_009079	Q7Z5V9	Q7Z5V9_HUMAN	Homo sapiens ring finger protein 112 (RNF112), mRNA.	285							GTP binding|GTPase activity|zinc ion binding	p.D285N(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						GGAGCTGAAGGATACAGACCT	0.562000														37			13		0	0	1	0	0
ACSM4	341392	broad.mit.edu	37	12	7473361	7473361	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:7473361C>T	uc001qsx.1	+	5	962	c.962C>T	c.(961-963)cCc>cTc	p.P321L		NM_001080454	NP_001073923	P0C7M7	ACSM4_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 4 (ACSM4), mRNA.	321					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						TGCAGTCCTCCCACTGTGTAC	0.468000														30			10		0	0	1	0	0
KIR2DL5B	553128	broad.mit.edu	37	GL000209.1	89544	89544	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrGL000209.1:89544C>T	uc002quk.1	+	3	484	c.429C>T	c.(427-429)tcC>tcT	p.S143S	KIR2DL2_uc002qtt.2_Intron|KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc021vdb.1_Intron|KIR2DL2_uc010yie.2_Intron	NM_001018081	NP_001018091	Q8NHK4	Q8NHK4_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5B (KIR2DL5B), mRNA.	143							receptor activity										TGACCTTGTCCTGCAGCTCCA	0.577000														15			25		0	0	1	0	0
SEMA3E	9723	broad.mit.edu	37	7	82996972	82996972	+	Missense_Mutation	SNP	T	C	C			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:82996972T>C	uc003uhy.2	-	16	2879	c.2258A>G	c.(2257-2259)aAc>aGc	p.N753S	SEMA3E_uc022agy.1_Missense_Mutation_p.N693S	NM_012431	NP_001171600	O15041	SEM3E_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E (SEMA3E), transcript variant 1, mRNA.	753	Arg/Lys-rich (basic).				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				TTCCTGAGGGTTGGCATACTT	0.483000														118			62		0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103120101	103120101	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:103120101C>T	uc002tbz.4	+	2	1372	c.915C>T	c.(913-915)atC>atT	p.I305I		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	305					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						AGCCACTCATCGTCTTCATGT	0.428000														38			31		0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82875940	82875940	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:82875940G>A	uc003kii.3	+	13	10378	c.10022G>A	c.(10021-10023)gGa>gAa	p.G3341E	VCAN_uc003kij.3_Missense_Mutation_p.G2354E|VCAN_uc010jau.2_Missense_Mutation_p.G1587E|VCAN_uc003kik.3_Missense_Mutation_p.G600E|VCAN_uc003kil.3_Missense_Mutation_p.G2005E	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	3341	Sushi.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CGGTGCTTAGGAAATGGAAGA	0.408000														55			35		0	0	1	0	0
AP2B1	163	broad.mit.edu	37	17	33935215	33935215	+	Missense_Mutation	SNP	T	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:33935215T>A	uc002hjr.3	+	4	523	c.334T>A	c.(334-336)Tgc>Agc	p.C112S	AP2B1_uc002hjq.3_Missense_Mutation_p.C112S|AP2B1_uc010wci.2_Intron|AP2B1_uc002hjs.3_Missense_Mutation_p.C55S|AP2B1_uc002hjt.3_Missense_Mutation_p.C112S|AP2B1_uc010ctv.3_Missense_Mutation_p.C112S	NM_001282	NP_001273	P63010	AP2B1_HUMAN	Homo sapiens adaptor-related protein complex 2, beta 1 subunit (AP2B1), transcript variant 2, mRNA.	112					axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		AACCATGGGGTGCATCCGGGT	0.478000														37			13		0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12656204	12656204	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:12656204G>A	uc002gno.2	+	9	1898	c.1599G>A	c.(1597-1599)tgG>tgA	p.W533*	MYOCD_uc002gnn.2_Nonsense_Mutation_p.W533*|MYOCD_uc002gnp.1_Nonsense_Mutation_p.W437*|MYOCD_uc002gnq.2_Nonsense_Mutation_p.W252*	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	533					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		AACTCACCTGGAAACTCCAGC	0.537000														25			19		0	0	1	0	0
CHD6	84181	broad.mit.edu	37	20	40122212	40122212	+	Missense_Mutation	SNP	T	C	C			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr20:40122212T>C	uc002xka.1	-	9	1458	c.1280A>G	c.(1279-1281)gAa>gGa	p.E427G	CHD6_uc002xkd.2_Missense_Mutation_p.E405G	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA.	427	Chromo 2.				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TTGAAGAGATTCAAATTCTTT	0.398000														55			28		0	0	1	0	0
C2CD3	26005	broad.mit.edu	37	11	73809191	73809191	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:73809191G>A	uc001ouu.2	-	15	3069	c.2842C>T	c.(2842-2844)Cga>Tga	p.R948*		NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	Homo sapiens C2 calcium-dependent domain containing 3 (C2CD3), mRNA.	948						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					AAAAAGACTCGAAGACTCCCA	0.473000														47			22		0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135496364	135496364	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:135496364G>A	uc004ezu.1	+	24	9374	c.9083G>A	c.(9082-9084)gGa>gAa	p.G3028E	GPR112_uc010nsb.1_Missense_Mutation_p.G2823E	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	3028					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AAACAGGAGGGACTAAAGAAA	0.388000														14			40		0	0	1	0	0
FLT4	2324	broad.mit.edu	37	5	180048130	180048130	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:180048130C>T	uc003mlz.4	-	13	2222	c.2143G>A	c.(2143-2145)Gag>Aag	p.E715K	FLT4_uc003mma.4_Missense_Mutation_p.E715K|FLT4_uc003mmb.1_Missense_Mutation_p.E248K|FLT4_uc011dgy.2_Missense_Mutation_p.E715K	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	715	Ig-like C2-type 7.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	AGCAGCCTCTCGTCTTTGTAC	0.657000														31			17		0	0	1	0	0
PLXNA3	55558	broad.mit.edu	37	X	153699493	153699493	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:153699493C>T	uc004flm.3	+	30	5375	c.5202C>T	c.(5200-5202)ttC>ttT	p.F1734F		NM_017514	NP_059984	P51805	PLXA3_HUMAN	Homo sapiens plexin A3 (PLXNA3), mRNA.	1734					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACCCGCAGTTCGTGTTCGACA	0.607000														16			52		0	0	1	0	0
SH3GL2	6456	broad.mit.edu	37	9	17795682	17795682	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:17795682G>A	uc003zna.3	+	8	1288	c.1000G>A	c.(1000-1002)Ggc>Agc	p.G334S	SH3GL2_uc011lmy.2_Missense_Mutation_p.G287S	NM_003026	NP_003017	Q99962	SH3G2_HUMAN	Homo sapiens SH3-domain GRB2-like 2 (SH3GL2), mRNA.	334	SH3.				axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	Golgi membrane|cytosol|plasma membrane	identical protein binding|lipid binding	p.G334C(2)		NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		GATGCTGCATGGCCATTCAGG	0.478000														29			11		0	0	1	0	0
PDE11A	50940	broad.mit.edu	37	2	178528653	178528653	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:178528653C>T	uc002ulq.3	-	18	2905	c.2587G>A	c.(2587-2589)Gat>Aat	p.D863N	PDE11A_uc002ulp.3_Missense_Mutation_p.D419N|PDE11A_uc002ulr.3_Missense_Mutation_p.D613N|PDE11A_uc010zfd.2_Missense_Mutation_p.D54N|PDE11A_uc002uls.1_Missense_Mutation_p.D505N|PDE11A_uc002ult.1_Missense_Mutation_p.D613N|PDE11A_uc002ulu.1_Missense_Mutation_p.D505N	NM_016953	NP_001070664	Q9HCR9	PDE11_HUMAN	Homo sapiens phosphodiesterase 11A (PDE11A), transcript variant 4, mRNA.	863	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			GGCAGTTCATCCTTCCGGTTC	0.453000									Primary Pigmented Nodular Adrenocortical Disease, Familial					39			14		0	0	1	0	0
ACSS3	79611	broad.mit.edu	37	12	81624882	81624882	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:81624882G>A	uc001szl.1	+	11	1652	c.1561G>A	c.(1561-1563)Gaa>Aaa	p.E521K	ACSS3_uc001szm.1_Missense_Mutation_p.E520K|ACSS3_uc001szn.1_Missense_Mutation_p.E203K	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 3 (ACSS3), mRNA.	521						mitochondrion	ATP binding|acetate-CoA ligase activity	p.Q520H(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						GAAGAATCAGGAAGCATTCAA	0.303000														18			6		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36873549	36873549	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:36873549C>T	uc003cgj.3	-	20	7641	c.7393G>A	c.(7393-7395)Gaa>Aaa	p.E2465K		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2465					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GGTTTGTATTCCTGAATGATG	0.483000														43			32		0	0	1	0	0
OR5B3	441608	broad.mit.edu	37	11	58170735	58170735	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:58170735C>T	uc010rkf.2	-	0	148	c.148G>A	c.(148-150)Gat>Aat	p.D50N		NM_001005469	NP_001005469	Q8NH48	OR5B3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 3 (OR5B3), mRNA.	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AGACAGGAATCCCAGAATATC	0.423000														43			28		0	0	1	0	0
CYP4A22	284541	broad.mit.edu	37	1	47608985	47608985	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:47608985C>T	uc001cqv.1	+	4	606	c.555C>T	c.(553-555)gtC>gtT	p.V185V	CYP4A22_uc009vyo.3_Silent_p.V185V|CYP4A22_uc009vyp.3_Silent_p.V185V	NM_001010969	NP_001010969	Q5TCH4	CP4AM_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 22 (CYP4A22), mRNA.	185			V -> F (in allele CYP4A22*10, allele CYP4A22*11, allele CYP4A22*12, allele CYP4A22*13, allele CYP4A22*14 and allele CYP4A22*15).			endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding	p.V185V(2)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CTCTGGAGGTCTTTCAGCACG	0.542000														27			14		0	0	1	0	0
APC2	10297	broad.mit.edu	37	19	1461050	1461050	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:1461050C>T	uc002lsr.1	+	12	1744	c.1536C>T	c.(1534-1536)atC>atT	p.I512I	APC2_uc002lss.1_Silent_p.I94I|APC2_uc002lst.1_Silent_p.I512I|APC2_uc002lsu.1_Silent_p.I511I	NM_005883	NP_005874	O95996	APC2_HUMAN	Homo sapiens adenomatosis polyposis coli 2 (APC2), mRNA.	512					Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus	Golgi membrane|actin filament|catenin complex|cytoplasmic microtubule|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding	p.I512V(1)		breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTCCAGCATCCTTCGGAACT	0.637000														77			64		0	0	1	0	0
ZNF415	55786	broad.mit.edu	37	19	53612104	53612104	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:53612104G>A	uc002qax.3	-	6	1687	c.1338C>T	c.(1336-1338)agC>agT	p.S446S	ZNF415_uc010yds.2_Silent_p.S398S|ZNF415_uc010ydt.2_Silent_p.S398S|ZNF415_uc002qau.3_Silent_p.S385S|ZNF415_uc002qav.3_Silent_p.S410S|ZNF415_uc002qaw.3_Silent_p.S398S|ZNF415_uc002qay.3_Silent_p.S385S|ZNF415_uc002qaz.3_Silent_p.S446S|ZNF415_uc002qba.3_Silent_p.S168S			Q09FC8	ZN415_HUMAN	Homo sapiens zinc finger protein 415 (ZNF415), transcript variant 4, non-coding RNA.	446					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding			breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		GCCTTGCAAGGCTTGAAGTCT	0.418000														41			21		0	0	1	0	0
RNF150	57484	broad.mit.edu	37	4	142053639	142053639	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:142053639G>A	uc003iio.1	-	0	978	c.324C>T	c.(322-324)ttC>ttT	p.F108F	RNF150_uc010iok.1_Silent_p.F108F|RNF150_uc003iip.1_Silent_p.F108F	NM_020724	NP_065775	Q9ULK6	RN150_HUMAN	Homo sapiens ring finger protein 150 (RNF150), mRNA.	108	PA.					integral to membrane	zinc ion binding	p.N108K(1)		breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					TCGGGGCGGCGAACTTGGTGT	0.672000														8			6		0	0	1	0	0
AP1B1	162	broad.mit.edu	37	22	29754757	29754757	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr22:29754757G>A	uc003afj.3	-	4	670	c.483C>T	c.(481-483)ttC>ttT	p.F161F	AP1B1_uc003afl.3_Silent_p.F161F|AP1B1_uc003afi.3_Silent_p.F161F	NM_001127	NP_001118	Q10567	AP1B1_HUMAN	Homo sapiens adaptor-related protein complex 1, beta 1 subunit (AP1B1), transcript variant 1, mRNA.	161					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	Golgi membrane|clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|lysosomal membrane	protein binding|protein transporter activity			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GGGTGTCCAGGAAGCCCTGGT	0.592000														84			15		0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131812737	131812737	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:131812737C>T	uc003ytd.4	-	14	3251	c.2995G>A	c.(2995-2997)Gaa>Aaa	p.E999K	ADCY8_uc010mds.3_Missense_Mutation_p.E868K	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	999					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TTATTCATTTCAGTCTGAGAG	0.448000										HNSCC(32;0.087)				34			103		0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23871893	23871893	+	Missense_Mutation	SNP	A	G	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:23871893A>G	uc003sws.4	+	23	3035	c.2968A>G	c.(2968-2970)Acc>Gcc	p.T990A	STK31_uc003swt.4_Missense_Mutation_p.T967A|STK31_uc011jze.2_Missense_Mutation_p.T967A|STK31_uc010kuq.3_Missense_Mutation_p.T967A|STK31_uc003swv.1_Missense_Mutation_p.T156A	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	990	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TACTGAATACACCCTATATAA	0.328000														63			12		0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58299357	58299357	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr13:58299357G>A	uc001vhq.1	+	3	4301	c.3409G>A	c.(3409-3411)Gaa>Aaa	p.E1137K	PCDH17_uc010aec.1_Missense_Mutation_p.E1136K|PCDH17_uc001vhr.1_Missense_Mutation_p.E226K	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	Homo sapiens protocadherin 17 (PCDH17), mRNA.	1137					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GGATGCAGAGGAAGTTGTGAG	0.493000														156			76		0	0	1	0	0
GIMAP4	55303	broad.mit.edu	37	7	150269947	150269947	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:150269947C>T	uc003whl.3	+	2	871	c.789C>T	c.(787-789)atC>atT	p.I263I	GIMAP4_uc011kuu.2_Silent_p.I124I|GIMAP4_uc011kuv.2_Silent_p.I277I	NM_018326	NP_060796	Q9NUV9	GIMA4_HUMAN	Homo sapiens GTPase, IMAP family member 4 (GIMAP4), mRNA.	263							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AAGAGAAAATCAGAAAGCTGG	0.463000														24			4		0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178413476	178413476	+	Silent	SNP	G	A	A	rs75667861	byFrequency	TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:178413476G>A	uc003mjr.3	-	7	1958	c.1779C>T	c.(1777-1779)gcC>gcT	p.A593A	GRM6_uc003mjq.3_5'Flank|GRM6_uc010jla.1_Silent_p.A176A|GRM6_uc003mjs.1_Silent_p.A213A	NM_000843	NP_000834	O15303	GRM6_HUMAN	Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA.	593					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		TGCCCAGCACGGCCAGGAGGA	0.711000														15			5		0	0	1	0	0
PPFIA2	8499	broad.mit.edu	37	12	81833809	81833809	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:81833809C>T	uc001szo.2	-	6	748	c.587G>A	c.(586-588)aGg>aAg	p.R196K	PPFIA2_uc010sug.2_Non-coding_Transcript|PPFIA2_uc021rbg.1_Missense_Mutation_p.R122K|PPFIA2_uc021rbh.1_Intron|PPFIA2_uc021rbi.1_Missense_Mutation_p.R196K|PPFIA2_uc021rbj.1_Missense_Mutation_p.R196K|PPFIA2_uc021rbk.1_Missense_Mutation_p.R178K|PPFIA2_uc021rbl.1_Missense_Mutation_p.R196K|PPFIA2_uc010sue.2_Missense_Mutation_p.R96K	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 (PPFIA2), transcript variant 1, mRNA.	122										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TAAAGAAACCCTCAGTCGCTC	0.408000														36			21		0	0	1	0	0
SYT3	84258	broad.mit.edu	37	19	51135641	51135641	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:51135641C>T	uc002pst.3	-	1	1210	c.576G>A	c.(574-576)ggG>ggA	p.G192G	SYT3_uc002psv.3_Silent_p.G192G|SYT3_uc010ycd.2_Silent_p.G192G	NM_032298	NP_115674	Q9BQG1	SYT3_HUMAN	Homo sapiens synaptotagmin III (SYT3), transcript variant 1, mRNA.	192						cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	p.G192W(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		AGCCTGCTCCCCCCTCAGAGG	0.642000														28			11		0	0	1	0	0
ECI2	10455	broad.mit.edu	37	6	4131033	4131033	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:4131033C>T	uc003mwf.3	-	2	317	c.280G>A	c.(280-282)Gac>Aac	p.D94N	ECI2_uc021yku.1_Missense_Mutation_p.D64N|ECI2_uc003mwc.3_5'UTR|ECI2_uc003mwd.3_Missense_Mutation_p.D64N|ECI2_uc003mwe.3_5'UTR|ECI2_uc010jnr.1_Non-coding_Transcript	NM_206836	NP_996667	O75521	ECI2_HUMAN	Homo sapiens enoyl-CoA delta isomerase 2 (ECI2), transcript variant 2, mRNA.	94	ACB.				fatty acid metabolic process	mitochondrion|peroxisomal matrix	dodecenoyl-CoA delta-isomerase activity|fatty-acyl-CoA binding			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	11						TTCCATGCGTCCCATTTGGCC	0.448000														206			60		0	0	1	0	0
CPSF6	11052	broad.mit.edu	37	12	69651668	69651668	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:69651668C>T	uc001sut.4	+	4	787	c.677C>T	c.(676-678)cCa>cTa	p.P226L	CPSF6_uc001suu.4_Missense_Mutation_p.P226L|CPSF6_uc010stk.2_5'Flank	NM_007007	NP_008938	Q16630	CPSF6_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 6, 68kDa (CPSF6), mRNA.	226	Pro-rich.				mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			CCAGGAGGGCCACCCCCACCT	0.488000														35			21		0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	7011475	7011475	+	Missense_Mutation	SNP	T	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr18:7011475T>A	uc002knm.3	-	24	3605	c.3511A>T	c.(3511-3513)Acg>Tcg	p.T1171S	LAMA1_uc010wzj.2_Missense_Mutation_p.T647S	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	1171	Laminin IV type A 2.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GAGCCCAGCGTTACCTAAACC	0.502000														3			3		0	0	1	0	0
HDAC11	79885	broad.mit.edu	37	3	13545678	13545678	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:13545678C>T	uc003bxy.3	+	8	867	c.734C>T	c.(733-735)tCc>tTc	p.S245F	HDAC11_uc010heb.3_Missense_Mutation_p.P203S|HDAC11_uc011aux.2_Missense_Mutation_p.S53F|HDAC11_uc011auy.2_Missense_Mutation_p.S194F	NM_024827	NP_079103	Q96DB2	HDA11_HUMAN	Homo sapiens histone deacetylase 11 (HDAC11), transcript variant 1, mRNA.	245	Histone deacetylase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex|plasma membrane	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|transcription factor binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(4)|prostate(3)	13						ATCAAGAAATCCCTCCAGGAG	0.602000														32			25		0	0	1	0	0
KRT17	3872	broad.mit.edu	37	17	39777124	39777124	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:39777124G>A	uc002hxh.2	-	5	1089	c.968C>T	c.(967-969)tCc>tTc	p.S323F	JUP_uc010wfs.2_Intron	NM_000422	NP_000413	Q04695	K1C17_HUMAN	Homo sapiens keratin 17 (KRT17), mRNA.	323	Coil 2.|Rod.				epidermis development	cytoplasm|intermediate filament	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				GCCCTCCAGGGATGCTTTCTG	0.622000														29			26		0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84539574	84539574	+	Missense_Mutation	SNP	C	G	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:84539574C>G	uc002bjz.4	+	8	1047	c.823C>G	c.(823-825)Caa>Gaa	p.Q275E	ADAMTSL3_uc010bmt.1_Missense_Mutation_p.Q275E	NM_207517	NP_997400	P82987	ATL3_HUMAN	Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.	275						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			AAAAACACTTCAAGGAAGCAA	0.333000														20			8		0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94120290	94120290	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:94120290G>A	uc001ybv.1	+	35	5936	c.5853G>A	c.(5851-5853)ggG>ggA	p.G1951G	UNC79_uc001ybs.1_Silent_p.G1929G	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	2106						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TTCCAGATGGGACTTTTTTAC	0.483000														111			54		0	0	1	0	0
SHROOM4	57477	broad.mit.edu	37	X	50339806	50339806	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:50339806C>T	uc004dpe.2	-	8	4397	c.4371G>A	c.(4369-4371)atG>atA	p.M1457I	SHROOM4_uc004dpd.3_Non-coding_Transcript	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN	Homo sapiens shroom family member 4 (SHROOM4), transcript variant 1, mRNA.	1457	ASD2.				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					GAGCAGATTTCATCTTGACAA	0.542000														5			12		0	0	1	0	0
SLA2	84174	broad.mit.edu	37	20	35262980	35262980	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr20:35262980G>A	uc002xfv.3	-	2	527	c.104C>T	c.(103-105)gCc>gTc	p.A35V	SLA2_uc002xfu.3_Missense_Mutation_p.A35V	NM_032214	NP_115590	Q9H6Q3	SLAP2_HUMAN	Homo sapiens Src-like-adaptor 2 (SLA2), transcript variant 1, mRNA.	35	SH3.				B cell mediated immunity|T cell activation|antigen receptor-mediated signaling pathway|intracellular receptor mediated signaling pathway|negative regulation of B cell activation|negative regulation of calcium-mediated signaling|negative regulation of transcription from RNA polymerase II promoter	cytoplasmic membrane-bounded vesicle|endosome membrane|plasma membrane	SH3/SH2 adaptor activity|protein N-terminus binding			endometrium(1)|lung(2)|skin(2)	5	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				CACGGCTGTGGCCTTGCTTCT	0.612000														14			5		0	0	1	0	0
OTUD7B	56957	broad.mit.edu	37	1	149937753	149937753	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:149937753G>A	uc001etn.3	-	4	909	c.553C>T	c.(553-555)Cct>Tct	p.P185S	OTUD7B_uc001eto.3_Missense_Mutation_p.P106S	NM_020205	NP_064590	Q6GQQ9	OTU7B_HUMAN	Homo sapiens OTU domain containing 7B (OTUD7B), mRNA.	185	Catalytic.|OTU.|TRAF-binding.				negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|cysteine-type peptidase activity|protein binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			GTTGCCAAAGGAAGCAGCCTC	0.517000														24			13		0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73960802	73960802	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:73960802C>T	uc004eby.3	-	2	4207	c.3590G>A	c.(3589-3591)aGg>aAg	p.R1197K		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	1197					DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GGATTTTTTCCTGGTGTTTTT	0.428000														10			26		0	0	1	0	0
SLC6A12	6539	broad.mit.edu	37	12	306005	306005	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:306005C>T	uc001qhz.3	-	11	1783	c.1119G>A	c.(1117-1119)atG>atA	p.M373I	SLC6A12_uc001qhy.3_Intron|SLC6A12_uc001qia.3_Missense_Mutation_p.M373I|SLC6A12_uc001qib.3_Missense_Mutation_p.M373I|SLC6A12_uc009zdh.2_Missense_Mutation_p.M373I	NM_003044	NP_003035	P48065	S6A12_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12 (SLC6A12), transcript variant 1, mRNA.	373					cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			ATAAGGGCATCATAGTCACAG	0.607000														82			27		0	0	1	0	0
NPC1	4864	broad.mit.edu	37	18	21124449	21124449	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr18:21124449G>A	uc002kum.4	-	12	2263	c.1989C>T	c.(1987-1989)atC>atT	p.I663I	NPC1_uc010xaz.2_Silent_p.I396I|NPC1_uc010xba.1_Silent_p.I508I	NM_000271	NP_000262	O15118	NPC1_HUMAN	Homo sapiens Niemann-Pick disease, type C1 (NPC1), mRNA.	663	SSD.				autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity	p.I663I(2)		breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AGCTCAGCACGATCAAGATGC	0.532000														52			25		0	0	1	0	0
RPGRIP1L	23322	broad.mit.edu	37	16	53639397	53639397	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:53639397G>A	uc002ehp.3	-	25	3895	c.3831C>T	c.(3829-3831)atC>atT	p.I1277I	RPGRIP1L_uc002eho.4_Silent_p.I1197I|RPGRIP1L_uc010vgy.2_Silent_p.I1231I|RPGRIP1L_uc010cbx.3_Silent_p.I1243I|RPGRIP1L_uc010vgz.1_Silent_p.I1231I	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN	Homo sapiens RPGRIP1-like (RPGRIP1L), transcript variant 1, mRNA.	1277					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				CCATACCATCGATATTTTGCT	0.493000														71			44		0	0	1	0	0
C5	727	broad.mit.edu	37	9	123758578	123758578	+	Splice_Site	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:123758578G>A	uc004bkv.3	-	22	2821	c.2791_splice	c.e22-1	p.P931_splice		NM_001735	NP_001726	P01031	CO5_HUMAN	Homo sapiens complement component 5 (C5), mRNA.	931					G-protein coupled receptor protein signaling pathway|activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	ACACCTTCTGGCTAAAATAAA	0.313000														93			52		0	0	1	0	0
RAB3D	9545	broad.mit.edu	37	19	11448055	11448055	+	Silent	SNP	G	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:11448055G>T	uc002mqx.3	-	1	282	c.21C>A	c.(19-21)acC>acA	p.T7T		NM_004283	NP_004274	O95716	RAB3D_HUMAN	Homo sapiens RAB3D, member RAS oncogene family (RAB3D), mRNA.	7					exocytosis|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|ovary(2)	14						GGCCTGCCTGGGTGTCTCCAG	0.552000														80			43		5.82388e-19	5.90684e-19	1	1	0
TTN	7273	broad.mit.edu	37	2	179442623	179442623	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:179442623G>A	uc021vsy.1	-	271	61051	c.60826C>T	c.(60826-60828)Cct>Tct	p.P20276S	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.P13971S|TTN_uc021vta.1_Missense_Mutation_p.P13904S|TTN_uc021vtb.1_Missense_Mutation_p.P13779S|AX746670_uc002umv.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	21203	Ig-like 111.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCCAGGAGGATCTAAAACA	0.348000														14			10		0	0	1	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106558339	106558339	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:106558339G>A	uc009yxn.1	-	8	2618	c.2228C>T	c.(2227-2229)tCg>tTg	p.S743L	GUCY1A2_uc001pjg.1_Missense_Mutation_p.S712L|GUCY1A2_uc010rvo.1_Missense_Mutation_p.S733L	NM_000855	NP_000846	P33402	GCYA2_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 2 (GUCY1A2), transcript variant 2, mRNA.	712					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding	p.S712L(1)		breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		TATTCTCGACGAAGAAAGAGA	0.478000														54			30		0	0	1	0	0
OR10Z1	128368	broad.mit.edu	37	1	158576999	158576999	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:158576999C>T	uc010pio.2	+	0	771	c.771C>T	c.(769-771)ttC>ttT	p.F257F		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily Z, member 1 (OR10Z1), mRNA.	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					GTGCTTCCTTCGTGTACCTGA	0.493000														118			53		0	0	1	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48809359	48809359	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:48809359C>T	uc002rwp.2	+	1	1701	c.1587C>T	c.(1585-1587)tcC>tcT	p.S529S	STON1-GTF2A1L_uc021vhf.1_Silent_p.S529S|STON1-GTF2A1L_uc002rwo.4_Silent_p.S529S|STON1-GTF2A1L_uc010fbm.3_Silent_p.S529S|STON1-GTF2A1L_uc010yol.2_Silent_p.S529S	NM_172311	NP_758515	B7ZL16	B7ZL16_HUMAN	Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 1, mRNA.	529					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTCCCTTTTCCTTGAAGTCTG	0.453000														56			29		0	0	1	0	0
KCNK16	83795	broad.mit.edu	37	6	39286823	39286823	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:39286823G>A	uc003oor.4	-	1	314	c.300C>T	c.(298-300)ttC>ttT	p.F100F	KCNK16_uc003ooq.3_Silent_p.F100F|KCNK16_uc010jwy.3_Silent_p.F100F|KCNK16_uc011dtz.1_Silent_p.F100F	NM_001135105	NP_001128577	Q96T55	KCNKG_HUMAN	Homo sapiens potassium channel, subfamily K, member 16 (KCNK16), transcript variant 1, mRNA.	100						integral to membrane	potassium channel activity|voltage-gated ion channel activity			large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						TGCCTGCAAAGAAGAAACTGC	0.547000														75			10		0	0	1	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57069988	57069988	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:57069988C>T	uc001njr.3	-	5	4940	c.4628G>A	c.(4627-4629)cGa>cAa	p.R1543Q	TNKS1BP1_uc001njq.3_Missense_Mutation_p.R115Q|TNKS1BP1_uc001njs.3_Missense_Mutation_p.R1543Q	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	Homo sapiens tankyrase 1 binding protein 1, 182kDa (TNKS1BP1), mRNA.	1543	Acidic.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	p.R1542Q(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				TTGGGAGGGTCGCCGAGAAGT	0.632000														14			7		0	0	1	0	0
STAT5A	6776	broad.mit.edu	37	17	40447666	40447666	+	Missense_Mutation	SNP	C	G	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:40447666C>G	uc002hzj.2	+	5	1047	c.405C>G	c.(403-405)gaC>gaG	p.D135E	STAT5A_uc010cya.2_Missense_Mutation_p.D135E|STAT5A_uc010cyb.2_Missense_Mutation_p.D135E|STAT5A_uc010cyc.2_Missense_Mutation_p.D105E	NM_003152	NP_003143	P42229	STA5A_HUMAN	Homo sapiens signal transducer and activator of transcription 5A (STAT5A), mRNA.	135					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	DNA binding|calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		TCCTGGTTGACGCCATGTCCC	0.532000														12			12		0	0	1	0	0
ARPP21	10777	broad.mit.edu	37	3	35729315	35729315	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:35729315G>A	uc011axy.2	+	4	558	c.346G>A	c.(346-348)Gaa>Aaa	p.E116K	ARPP21_uc003cga.3_Missense_Mutation_p.E116K|ARPP21_uc003cgb.3_Missense_Mutation_p.E116K|ARPP21_uc003cgf.3_5'Flank	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	Homo sapiens cAMP-regulated phosphoprotein, 21kDa (ARPP21), transcript variant 1, mRNA.	116						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						AAGAGAAAAAGAAAAGGATAA	0.338000														54			25		0	0	1	0	0
SFI1	9814	broad.mit.edu	37	22	32011172	32011172	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr22:32011172C>T	uc003ale.3	+	28	3600	c.3207C>T	c.(3205-3207)ggC>ggT	p.G1069G	SFI1_uc003alf.3_Silent_p.G1038G|SFI1_uc003alg.3_Silent_p.G987G|SFI1_uc011alp.2_Silent_p.G975G|SFI1_uc011alq.2_Silent_p.G1014G|SFI1_uc003alh.3_Non-coding_Transcript|SFI1_uc010gwi.3_Non-coding_Transcript|SFI1_uc003ali.3_Silent_p.G161G|SFI1_uc003alj.3_Silent_p.G203G	NM_001007467	NP_001007468	A8K8P3	SFI1_HUMAN	Homo sapiens Sfi1 homolog, spindle assembly associated (yeast) (SFI1), transcript variant 1, mRNA.	1069					G2/M transition of mitotic cell cycle	centriole|cytosol				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						GCGCCCCTGGCCCGAAGCAGC	0.721000														22			9		0	0	1	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209163498	209163498	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:209163498C>T	uc002vcz.3	+	7	1203	c.1045C>T	c.(1045-1047)Ctt>Ttt	p.L349F	PIKFYVE_uc010fun.1_Missense_Mutation_p.L30F|PIKFYVE_uc002vcy.1_Missense_Mutation_p.L349F|PIKFYVE_uc002vcw.3_Missense_Mutation_p.L349F|PIKFYVE_uc002vcv.3_Missense_Mutation_p.L252F|PIKFYVE_uc002vcx.3_Missense_Mutation_p.L263F	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	Homo sapiens phosphoinositide kinase, FYVE finger containing (PIKFYVE), transcript variant 2, mRNA.	349					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						ACGCAAAATTCTTCTGGTACT	0.423000														30			16		0	0	1	0	0
ZBTB16	7704	broad.mit.edu	37	11	113934819	113934819	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:113934819G>A	uc001pop.3	+	1	1061	c.797G>A	c.(796-798)gGa>gAa	p.G266E	ZBTB16_uc001poo.1_Missense_Mutation_p.G266E|ZBTB16_uc001poq.3_Missense_Mutation_p.G266E	NM_006006	NP_005997	Q05516	ZBT16_HUMAN	Homo sapiens zinc finger and BTB domain containing 16 (ZBTB16), transcript variant 1, mRNA.	266					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	PML body|nuclear speck|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		AGCATCTCAGGAGGGATGGGG	0.637000														17			7		0	0	1	0	0
ORC1	4998	broad.mit.edu	37	1	52854939	52854939	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:52854939G>A	uc001ctt.3	-	6	1368	c.1137C>T	c.(1135-1137)atC>atT	p.I379I	ORC1_uc010oni.2_Silent_p.I379I|ORC1_uc001ctu.3_Silent_p.I379I	NM_004153	NP_004144	Q13415	ORC1_HUMAN	Homo sapiens origin recognition complex, subunit 1 (ORC1), transcript variant 1, mRNA.	379					DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						TCTTTCTGCGGATACGATGGG	0.488000														53			33		0	0	1	0	0
MTHFD2L	441024	broad.mit.edu	37	4	75065573	75065573	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:75065573C>T	uc011cbk.2	+	3	541	c.514C>T	c.(514-516)Cat>Tat	p.H172Y	MTHFD2L_uc011cbj.2_Missense_Mutation_p.H114Y|MTHFD2L_uc003hhn.1_Missense_Mutation_p.H114Y	NM_001144978	NP_001138450	Q9H903	MTD2L_HUMAN	Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like (MTHFD2L), mRNA.	114					folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process		binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity			central_nervous_system(1)|endometrium(1)|lung(4)|ovary(2)	8			all cancers(17;0.0101)|Lung(101;0.196)			AGATGGATTTCATATTATCAA	0.338000														64			31		0	0	1	0	0
FRG2B	441581	broad.mit.edu	37	10	135440175	135440175	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:135440175G>A	uc010qvg.2	-	0	125	c.72C>T	c.(70-72)ttC>ttT	p.F24F		NM_001080998	NP_001074467	Q96QU4	FRG2B_HUMAN	Homo sapiens FSHD region gene 2 family, member B (FRG2B), mRNA.	24						nucleus				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		AGATCTGTTGGAAAGGGGGCT	0.493000														147			15		0	0	1	0	0
SBSN	374897	broad.mit.edu	37	19	36018411	36018411	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:36018411C>T	uc002oad.2	-	0	843	c.773G>A	c.(772-774)gGg>gAg	p.G258E	SBSN_uc002oae.2_Intron|SBSN_uc021usp.1_Intron	NM_001166034	NP_001159506	Q6UWP8	SBSN_HUMAN	Homo sapiens suprabasin (SBSN), transcript variant 1, mRNA.	131						extracellular region				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GCCAAATCTCCCTGCCTCATT	0.632000														5			3		0	0	1	0	0
STUB1	10273	broad.mit.edu	37	16	731277	731277	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:731277G>A	uc002cit.3	+	1	696	c.285G>A	c.(283-285)aaG>aaA	p.K95K	STUB1_uc002ciu.3_Silent_p.K23K	NM_005861	NP_005852	Q9UNE7	CHIP_HUMAN	Homo sapiens STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase (STUB1), mRNA.	95					DNA repair|cellular response to misfolded protein|misfolded or incompletely synthesized protein catabolic process|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein autoubiquitination|protein maturation|regulation of glucocorticoid metabolic process|ubiquitin-dependent SMAD protein catabolic process	cytoplasm|nuclear inclusion body|ubiquitin conjugating enzyme complex|ubiquitin ligase complex	Hsp70 protein binding|Hsp90 protein binding|SMAD binding|TPR domain binding|kinase binding|misfolded protein binding|protein binding, bridging|protein homodimerization activity|ubiquitin-ubiquitin ligase activity			endometrium(2)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	6		Hepatocellular(780;0.00335)				AGTCTGTGAAGGCGCACTTCT	0.632000														21			7		0	0	1	0	0
TTLL5	23093	broad.mit.edu	37	14	76243179	76243179	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:76243179C>T	uc010ask.2	+	23	2690	c.2415C>T	c.(2413-2415)ttC>ttT	p.F805F	TTLL5_uc001xrx.3_Silent_p.F791F|TTLL5_uc001xrz.3_Silent_p.F366F|TTLL5_uc001xry.1_Non-coding_Transcript	NM_015072	NP_055887	Q6EMB2	TTLL5_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 5 (TTLL5), mRNA.	791					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		TTCAGGAGTTCATCAGACAAG	0.388000														51			29		0	0	1	0	0
FAM71B	153745	broad.mit.edu	37	5	156590534	156590534	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:156590534C>T	uc003lwn.3	-	1	842	c.742G>A	c.(742-744)Gct>Act	p.A248T		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA.	248	Ala-rich.					nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GATGGAGAAGCCGCACTAGCC	0.582000														42			29		0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108135770	108135770	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:108135770G>A	uc003dxa.1	-	29	3954	c.3897C>T	c.(3895-3897)ttC>ttT	p.F1299F		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	1299						myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GCCTCCGTAGGAACTCGCCTA	0.443000														41			20		0	0	1	0	0
OR5T1	390155	broad.mit.edu	37	11	56043428	56043428	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:56043428C>T	uc001nio.1	+	0	314	c.314C>T	c.(313-315)tCa>tTa	p.S105L		NM_001004745	NP_001004745	Q8NG75	OR5T1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 1 (OR5T1), mRNA.	105					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					AAATCTATTTCATTTCTTGGA	0.368000														78			33		0	0	1	0	0
LAMB3	3914	broad.mit.edu	37	1	209800749	209800749	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:209800749G>A	uc001hhg.3	-	10	1854	c.1464C>T	c.(1462-1464)tcC>tcT	p.S488S	LAMB3_uc009xco.3_Silent_p.S488S|LAMB3_uc001hhh.3_Silent_p.S488S|LAMB3_uc010psl.1_Non-coding_Transcript	NM_001017402	NP_001121113	Q13751	LAMB3_HUMAN	Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA.	488	Laminin EGF-like 5.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GTGGGCTGAGGGAGTTGTGCG	0.657000											OREG0014217	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		28			25		0	0	1	0	0
BV13S6J2.1	0	broad.mit.edu	37	7	142180622	142180622	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:142180622G>A	uc011krz.2	-	1	286	c.237C>T	c.(235-237)gtC>gtT	p.V79V	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Silent_p.V79V|BV13S6J2.1_uc022anl.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		AGCCATTGGGGACTTCTCCTT	0.527000														364			83		0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	63937265	63937265	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:63937265G>A	uc002amp.3	-	56	11258	c.11110C>T	c.(11110-11112)Cgc>Tgc	p.R3704C		NM_003922	NP_003913	Q15751	HERC1_HUMAN	Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA.	3704					protein modification process|transport	Golgi apparatus|cytosol|membrane	ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TGAGGAATGCGCCAAACACAT	0.383000														83			55		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32037545	32037545	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:32037545G>A	uc003nzl.2	-	14	5574	c.5372C>T	c.(5371-5373)tCc>tTc	p.S1791F		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1873	Fibronectin type-III 10.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	p.S1878F(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GAGGCCCACGGAGTTCTGGGT	0.617000														24			11		0	0	1	0	0
AFF1	4299	broad.mit.edu	37	4	87967415	87967415	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:87967415C>T	uc011ccz.2	+	2	411	c.136C>T	c.(136-138)Ccc>Tcc	p.P46S	AFF1_uc011ccx.2_Intron|AFF1_uc003hqh.2_Missense_Mutation_p.P46S|AFF1_uc011ccy.2_Missense_Mutation_p.P46S|AFF1_uc003hqj.4_Missense_Mutation_p.P39S|AFF1_uc003hqk.4_Missense_Mutation_p.P39S|AFF1_uc011cda.2_Intron	NM_001166693	NP_001160165	P51825	AFF1_HUMAN	Homo sapiens AF4/FMR2 family, member 1 (AFF1), transcript variant 1, mRNA.	39				K -> R (in Ref. 2; AAA36642).		nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		TGAAAAGATTCCCCTTTTTGG	0.403000														110			46		0	0	1	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156643314	156643314	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:156643314G>A	uc003iov.3	+	9	2377	c.1841G>A	c.(1840-1842)cGa>cAa	p.R614Q	GUCY1A3_uc010iqc.2_Missense_Mutation_p.R614Q|GUCY1A3_uc010iqd.3_Missense_Mutation_p.R613Q|GUCY1A3_uc003iow.3_Missense_Mutation_p.R614Q|GUCY1A3_uc003iox.3_Missense_Mutation_p.R614Q|GUCY1A3_uc010iqe.3_Missense_Mutation_p.R379Q|GUCY1A3_uc003ioy.3_Missense_Mutation_p.R614Q|GUCY1A3_uc003ioz.3_Missense_Mutation_p.R379Q|GUCY1A3_uc003ipa.3_Non-coding_Transcript|GUCY1A3_uc003ipb.3_Missense_Mutation_p.R614Q	NM_000856	NP_001124157	Q02108	GCYA3_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 3 (GUCY1A3), transcript variant 1, mRNA.	614					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		AGTGTACCACGAAAAATCAAT	0.378000														49			34		0	0	1	0	0
CYTH1	9267	broad.mit.edu	37	17	76676406	76676406	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:76676406G>A	uc021ueg.1	-	11	1055	c.984C>T	c.(982-984)atC>atT	p.I328I	CYTH1_uc010wtv.2_Non-coding_Transcript|CYTH1_uc002jvw.3_Silent_p.I327I	NM_004762	NP_004753	Q15438	CYH1_HUMAN	Homo sapiens cytohesin 1 (CYTH1), transcript variant 1, mRNA.	328	PH.				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	19						TATTGTCGGGGATATAAAGCT	0.498000														23			15		0	0	1	0	0
ITIH4	3700	broad.mit.edu	37	3	52860887	52860887	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:52860887C>A	uc011bem.2	-	3	467	c.439G>T	c.(439-441)Gag>Tag	p.E147*	ITIH4_uc011bel.2_5'Flank|ITIH4_uc003dfy.3_Nonsense_Mutation_p.E23*|ITIH4_uc003dfz.3_Nonsense_Mutation_p.E147*|ITIH4_uc011ben.2_Nonsense_Mutation_p.E147*	NM_002218	NP_002209	Q14624	ITIH4_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 4 (ITIH4), transcript variant 1, mRNA.	147	VIT.				acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		AGCAGCTCCTCATAGACCAGC	0.602000														34			26		3.1745e-13	3.21183e-13	1	1	0
ITIH6	347365	broad.mit.edu	37	X	54776409	54776409	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:54776409G>A	uc004dtj.2	-	12	3891	c.3861C>T	c.(3859-3861)ccC>ccT	p.P1287P		NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 6 (ITIH6), mRNA.	1287					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										AAGCCCAGCGGGGCAGCAGCC	0.582000														7			10		0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20521064	20521064	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:20521064C>T	uc003gpr.1	+	11	1322	c.1118C>T	c.(1117-1119)tCc>tTc	p.S373F	SLIT2_uc003gps.1_Missense_Mutation_p.S373F	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	373					Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GGACTGTTTTCCTTACAGCTC	0.313000														32			9		0	0	1	0	0
ODZ4	26011	broad.mit.edu	37	11	78369279	78369279	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:78369279C>T	uc001ozl.4	-	33	8597	c.8134G>A	c.(8134-8136)Gaa>Aaa	p.E2712K	ODZ4_uc001ozk.4_Missense_Mutation_p.E937K	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	2712					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						TCCTCCCCTTCCCGCAGTCTC	0.662000														22			12		0	0	1	0	0
KCNQ2	3785	broad.mit.edu	37	20	62038120	62038120	+	Silent	SNP	G	C	C			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr20:62038120G>C	uc002yey.1	-	16	2673	c.2496C>G	c.(2494-2496)ccC>ccG	p.P832P	KCNQ2_uc002yez.1_Silent_p.P801P|KCNQ2_uc002yfa.1_Silent_p.P814P|KCNQ2_uc002yfb.1_Silent_p.P804P	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 2 (KCNQ2), transcript variant 1, mRNA.	832					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	CCGCAATGTAGGGCCTGACTT	0.652000														20			8		0	0	1	0	0
NUMBL	9253	broad.mit.edu	37	19	41174000	41174000	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:41174000G>A	uc002oon.3	-	9	1371	c.1203C>T	c.(1201-1203)gcC>gcT	p.A401A	NUMBL_uc010xvq.2_Silent_p.A360A|NUMBL_uc010xvr.2_Silent_p.A360A|NUMBL_uc002ooo.3_Silent_p.A400A	NM_004756	NP_004747	Q9Y6R0	NUMBL_HUMAN	Homo sapiens numb homolog (Drosophila)-like (NUMBL), mRNA.	401					cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process	cytoplasm	protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			CAGGCTGGAAGGCAGCTGCAG	0.657000														5			3		0	0	1	0	0
C2orf78	388960	broad.mit.edu	37	2	74043970	74043970	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:74043970G>A	uc002sjr.1	+	2	2741	c.2620G>A	c.(2620-2622)Gag>Aag	p.E874K		NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN	Homo sapiens chromosome 2 open reading frame 78 (C2orf78), mRNA.	874										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						CATCACAGAAGAGCAGAGGCC	0.493000														23			12		0	0	1	0	0
FAM105A	54491	broad.mit.edu	37	5	14602410	14602410	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:14602410C>T	uc003jfj.3	+	4	580	c.467C>T	c.(466-468)cCa>cTa	p.P156L		NM_019018	NP_061891	Q9NUU6	F105A_HUMAN	Homo sapiens family with sequence similarity 105, member A (FAM105A), mRNA.	156										large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					ATCTCTTTTCCATCATGGATG	0.408000														39			22		0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139164029	139164029	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:139164029G>A	uc003yuy.3	-	12	2860	c.2689C>T	c.(2689-2691)Cat>Tat	p.H897Y	FAM135B_uc003yux.3_Missense_Mutation_p.H798Y|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Missense_Mutation_p.H459Y|FAM135B_uc003yvb.3_Missense_Mutation_p.H459Y	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	897										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AGTGCTCTATGAAGAGATCTG	0.473000										HNSCC(54;0.14)				26			85		0	0	1	0	0
SLC26A10	65012	broad.mit.edu	37	12	58016672	58016672	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:58016672C>T	uc001spe.3	+	5	1205	c.894C>T	c.(892-894)gcC>gcT	p.A298A	SLC26A10_uc001spf.3_Non-coding_Transcript|SLC26A10_uc009zpz.2_5'Flank	NM_133489	NP_597996	Q8NG04	S2610_HUMAN	Homo sapiens solute carrier family 26, member 10 (SLC26A10), mRNA.	298						integral to membrane	antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					CCTCCCTGGCCTCCATCCATG	0.562000														36			21		0	0	1	0	0
ENAM	10117	broad.mit.edu	37	4	71510382	71510382	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:71510382G>A	uc011caw.1	+	8	3520	c.3239G>A	c.(3238-3240)aGc>aAc	p.S1080N		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Homo sapiens enamelin (ENAM), mRNA.	1080					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			GGAAGGCAAAGCCCATTTGAT	0.423000														57			30		0	0	1	0	0
MET	4233	broad.mit.edu	37	7	116339542	116339542	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:116339542G>A	uc003vij.3	+	1	591	c.404G>A	c.(403-405)aGc>aAc	p.S135N	MET_uc022akk.1_Missense_Mutation_p.S135N|MET_uc010lkh.3_Missense_Mutation_p.S135N|MET_uc011knc.1_Missense_Mutation_p.S135N|MET_uc011knd.2_Missense_Mutation_p.S135N|MET_uc011knf.2_Missense_Mutation_p.S135N|MET_uc011kne.2_Missense_Mutation_p.S135N|MET_uc011kng.1_Missense_Mutation_p.S135N|MET_uc011knh.1_Missense_Mutation_p.S135N|MET_uc011kni.2_Missense_Mutation_p.S135N|MET_uc003vii.1_Missense_Mutation_p.S154N|MET_uc010lkg.3_Missense_Mutation_p.S135N|MET_uc011kmz.1_Missense_Mutation_p.S135N|MET_uc011kna.1_Missense_Mutation_p.S135N|MET_uc011knb.1_Missense_Mutation_p.S135N	NM_000245	NP_000236	P08581	MET_HUMAN	Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA.	135	Sema.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			AGCTGTGGCAGCGTCAACAGA	0.468000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)					200			53		0	0	1	0	0
SPOCK3	50859	broad.mit.edu	37	4	167810336	167810336	+	Silent	SNP	T	C	C			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:167810336T>C	uc011cjq.1	-	4	627	c.570A>G	c.(568-570)ggA>ggG	p.G190G	SPOCK3_uc021xuf.1_Silent_p.G181G|SPOCK3_uc011cjr.1_Silent_p.G61G|SPOCK3_uc003iri.1_Silent_p.G181G|SPOCK3_uc011cjs.1_Silent_p.G130G|SPOCK3_uc003irj.1_Silent_p.G178G|SPOCK3_uc011cjt.1_Silent_p.G89G|SPOCK3_uc011cjp.2_Silent_p.G178G|SPOCK3_uc011cju.1_Silent_p.G85G|SPOCK3_uc011cjv.1_Silent_p.G83G|SPOCK3_uc003irk.4_Silent_p.G178G|SPOCK3_uc011cjw.1_Non-coding_Transcript	NM_001204353	NP_001191282	Q9BQ16	TICN3_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 (SPOCK3), transcript variant 4, mRNA.	181					signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		ATGGGCAATGTCCTTCACATT	0.333000														66			32		0	0	1	0	0
SLC26A7	115111	broad.mit.edu	37	8	92365156	92365156	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:92365156G>A	uc003yez.3	+	10	1485	c.1246G>A	c.(1246-1248)Gga>Aga	p.G416R	SLC26A7_uc003yex.3_Missense_Mutation_p.G416R|SLC26A7_uc003yey.3_Non-coding_Transcript|SLC26A7_uc003yfa.3_Missense_Mutation_p.G416R	NM_134266	NP_599028	Q8TE54	S26A7_HUMAN	Homo sapiens solute carrier family 26, member 7 (SLC26A7), transcript variant 2, mRNA.	416						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			TATTGTTGTGGGACTGAAGGG	0.313000														23			115		0	0	1	0	0
SCNN1G	6340	broad.mit.edu	37	16	23203765	23203765	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:23203765C>T	uc002dlm.1	+	3	850	c.711C>T	c.(709-711)atC>atT	p.I237I		NM_001039	NP_001030	P51170	SCNNG_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, gamma (SCNN1G), mRNA.	237					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	WW domain binding|ligand-gated sodium channel activity			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	ACATGAACATCATGGCACAGG	0.493000														53			29		0	0	1	0	0
FAM155B	27112	broad.mit.edu	37	X	68725644	68725644	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:68725644C>T	uc004dxk.3	+	0	567	c.519C>T	c.(517-519)tcC>tcT	p.S173S		NM_015686	NP_056501	O75949	F155B_HUMAN	Homo sapiens family with sequence similarity 155, member B (FAM155B), mRNA.	173						integral to membrane				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						ACTCCCTTTCCCGTGCCCCGG	0.587000														8			19		0	0	1	0	0
AHSG	197	broad.mit.edu	37	3	186338525	186338525	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:186338525C>T	uc003fqk.4	+	6	991	c.910C>T	c.(910-912)Cct>Tct	p.P304S		NM_001622	NP_001613	P02765	FETUA_HUMAN	Homo sapiens alpha-2-HS-glycoprotein (AHSG), mRNA.	304					acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		ACTGGCAGCTCCTCCAGGACA	0.647000														123			60		0	0	1	0	0
TPCN1	53373	broad.mit.edu	37	12	113722539	113722539	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:113722539C>T	uc001tux.3	+	17	1806	c.1632C>T	c.(1630-1632)tcC>tcT	p.S544S	TPCN1_uc001tuw.3_Silent_p.S472S|TPCN1_uc010syt.1_Silent_p.S404S	NM_001143819	NP_060371	Q9ULQ1	TPC1_HUMAN	Homo sapiens two pore segment channel 1 (TPCN1), transcript variant 1, mRNA.	472						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						ACTTCTTCTCCAAGCACGTGC	0.517000														55			32		0	0	1	0	0
PRLR	5618	broad.mit.edu	37	5	35086443	35086443	+	Splice_Site	SNP	C	G	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:35086443C>G	uc003jjm.3	-	4	630	c.71_splice	c.e4-1	p.G24_splice	PRLR_uc003jjk.1_Intron|PRLR_uc003jjg.2_Splice_Site_p.G24_splice|PRLR_uc003jjh.2_Splice_Site_p.G24_splice|PRLR_uc003jji.2_Intron|PRLR_uc003jjj.2_Splice_Site_p.G24_splice|PRLR_uc003jjl.4_Intron|PRLR_uc021xxl.1_Splice_Site_p.G24_splice|PRLR_uc010iuw.1_Splice_Site	NM_000949	NP_000940	P16471	PRLR_HUMAN	Homo sapiens prolactin receptor (PRLR), transcript variant 1, mRNA.	24					T cell activation|activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	GGTAACTGTCCTAGAAAAAGC	0.468000														53			18		0	0	1	0	0
LPAR4	2846	broad.mit.edu	37	X	78010384	78010384	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:78010384C>T	uc022bzj.1	+	0	18	c.18C>T	c.(16-18)ttC>ttT	p.F6F	LPAR4_uc010nme.3_Silent_p.F6F	NM_005296	NP_005287	Q99677	LPAR4_HUMAN	Homo sapiens lysophosphatidic acid receptor 4 (LPAR4), mRNA.	6						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						ACAGAAGATTCATTGACTTCC	0.438000														5			20		0	0	1	0	0
PRR14L	253143	broad.mit.edu	37	22	32099612	32099612	+	Missense_Mutation	SNP	A	G	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr22:32099612A>G	uc003alp.4	-	5	6117	c.5924T>C	c.(5923-5925)gTt>gCt	p.V1975A	PRR14L_uc003alo.2_Missense_Mutation_p.V1774A|PRR14L_uc010gwj.1_Missense_Mutation_p.V1774A	NM_173566	NP_775837	Q5THK1	PR14L_HUMAN	Homo sapiens proline rich 14-like (PRR14L), mRNA.	1975										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						CAATCCACGAACCTGGAACTC	0.547000														96			30		0	0	1	0	0
FAM19A2	338811	broad.mit.edu	37	12	62261172	62261172	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:62261172C>T	uc001sqw.3	-	1	1617	c.35G>A	c.(34-36)gGa>gAa	p.G12E	FAM19A2_uc001sqx.3_Missense_Mutation_p.G12E|FAM19A2_uc001sqy.3_Non-coding_Transcript	NM_178539	NP_848634	Q8N3H0	F19A2_HUMAN	Homo sapiens family with sequence similarity 19 (chemokine (C-C motif)-like), member A2 (FAM19A2), mRNA.	12						cytoplasm		p.G12E(2)		endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	15			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		TAGCAGTTTTCCTTTTGTTGC	0.294000														48			27		0	0	1	0	0
CDH12	1010	broad.mit.edu	37	5	21752148	21752148	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:21752148G>A	uc010iuc.2	-	11	2541	c.2083C>T	c.(2083-2085)Cca>Tca	p.P695S	CDH12_uc011cno.1_Missense_Mutation_p.P655S|CDH12_uc003jgk.2_Missense_Mutation_p.P695S|BC038535_uc003jgj.3_Intron	NM_004061	NP_004052	P55289	CAD12_HUMAN	Homo sapiens cadherin 12, type 2 (N-cadherin 2) (CDH12), mRNA.	695					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.K694N(1)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						AGAGAGTCTGGTTTTATATCC	0.458000										HNSCC(59;0.17)				33			21		0	0	1	0	0
SUV420H1	51111	broad.mit.edu	37	11	67925374	67925374	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:67925374C>T	uc001onm.1	-	10	2695	c.2439G>A	c.(2437-2439)atG>atA	p.M813I	SUV420H1_uc009yse.1_Missense_Mutation_p.M399I|SUV420H1_uc001onn.1_Missense_Mutation_p.M641I|SUV420H1_uc009ysf.2_Missense_Mutation_p.M573I	NM_017635	NP_060105	Q4FZB7	SV421_HUMAN	Homo sapiens suppressor of variegation 4-20 homolog 1 (Drosophila) (SUV420H1), transcript variant 1, mRNA.	813					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						CATCCACCTCCATTCGAGACT	0.453000														86			47		0	0	1	0	0
MLL3	58508	broad.mit.edu	37	7	151962208	151962208	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:151962208G>A	uc003wla.3	-	7	1318	c.1099C>T	c.(1099-1101)Cat>Tat	p.H367Y		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	367					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	p.H367Y(3)|p.Y366S(1)		NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		CACATTCCATGATAGTGCTGA	0.448000			N		medulloblastoma									504			49		0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814626	106814626	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:106814626C>T	uc003ymd.3	+	7	2339	c.2316C>T	c.(2314-2316)tcC>tcT	p.S772S	ZFPM2_uc011lhs.2_Silent_p.S503S	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	772					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CTTGTACCTCCACTCAAGAAC	0.463000														16			45		0	0	1	0	0
AK310441	0	broad.mit.edu	37	1	148889597	148889597	+	RNA	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:148889597C>T	uc009wkv.1	+	6		c.684C>T								Homo sapiens cDNA, FLJ17483.																		GCATGCAGTTCGTCAGAACTT	0.353000														47			6		0	0	1	0	0
ZNF518B	85460	broad.mit.edu	37	4	10446988	10446988	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:10446988G>A	uc003gmn.3	-	2	1452	c.965C>T	c.(964-966)cCt>cTt	p.P322L	ZNF518B_uc021xme.1_Missense_Mutation_p.P322L	NM_053042	NP_444270	Q9C0D4	Z518B_HUMAN	Homo sapiens zinc finger protein 518B (ZNF518B), mRNA.	322					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						TGGCTGAACAGGTTCTTTTGC	0.413000														54			27		0	0	1	0	0
INF2	64423	broad.mit.edu	37	14	105176039	105176039	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:105176039C>T	uc001ypb.2	+	11	2278	c.2135C>T	c.(2134-2136)cCc>cTc	p.P712L	INF2_uc001ypc.2_Missense_Mutation_p.P712L|INF2_uc010awz.1_Non-coding_Transcript	NM_022489	NP_071934	Q27J81	INF2_HUMAN	Homo sapiens inverted formin, FH2 and WH2 domain containing (INF2), transcript variant 1, mRNA.	712	FH2.				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	Rho GTPase binding|actin binding			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		CTGGCCATTCCCTGGTGAGCA	0.652000														46			23		0	0	1	0	0
GRAMD1A	57655	broad.mit.edu	37	19	35506837	35506837	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:35506837C>T	uc010xsf.1	+	10	1194	c.1194C>T	c.(1192-1194)ttC>ttT	p.F398F	GRAMD1A_uc010xse.1_Silent_p.F393F|GRAMD1A_uc002nxk.2_Silent_p.F386F|GRAMD1A_uc002nxl.2_Silent_p.F159F|GRAMD1A_uc002nxn.1_Silent_p.F8F	NM_020895	NP_065946	Q96CP6	GRM1A_HUMAN	Homo sapiens GRAM domain containing 1A (GRAMD1A), transcript variant 1, mRNA.	393						integral to membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			ACTCGCCCTTCCTCCAGGGCT	0.632000														35			31		0	0	1	0	0
AVL9	23080	broad.mit.edu	37	7	32598603	32598603	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:32598603G>A	uc003tcv.1	+	9	888	c.742G>A	c.(742-744)Gat>Aat	p.D248N	AVL9_uc011kai.2_Missense_Mutation_p.D248N|AVL9_uc010kwj.1_Missense_Mutation_p.D89N	NM_015060	NP_055875	Q8NBF6	AVL9_HUMAN	Homo sapiens AVL9 homolog (S. cerevisiase) (AVL9), mRNA.	248						integral to membrane				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TATGTCTGAAGATGGTGGGCT	0.408000														64			41		0	0	1	0	0
FKRP	79147	broad.mit.edu	37	19	47259901	47259901	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:47259901C>T	uc002pfn.2	+	3	1491	c.1194C>T	c.(1192-1194)gtC>gtT	p.V398V	FKRP_uc002pfp.2_Silent_p.V398V|FKRP_uc021uwj.1_Silent_p.V398V	NM_024301	NP_077277	Q9H9S5	FKRP_HUMAN	Homo sapiens fukutin related protein (FKRP), transcript variant 1, mRNA.	398						Golgi apparatus|extracellular space|rough endoplasmic reticulum|sarcolemma	transferase activity			NS(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336)		AGAAGGCGGTCGAGGGCGACT	0.632000														9			5		0	0	1	0	0
KRTAP13-2	337959	broad.mit.edu	37	21	31744195	31744195	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr21:31744195C>T	uc002ynz.4	-	0	363	c.337G>A	c.(337-339)Gga>Aga	p.G113R		NM_181621	NP_853652	Q52LG2	KR132_HUMAN	Homo sapiens keratin associated protein 13-2 (KRTAP13-2), nuclear gene encoding mitochondrial protein, mRNA.	113						intermediate filament				endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	21						CTCCTCGATCCATAGCCCAGG	0.582000														20			12		0	0	1	0	0
C9orf37	85026	broad.mit.edu	37	9	140510306	140510306	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:140510306G>A	uc004cnz.3	-	2	930	c.346C>T	c.(346-348)Ctt>Ttt	p.L116F	ARRDC1_uc004cnp.2_3'UTR|ARRDC1_uc004cnx.2_3'UTR	NM_032937	NP_116326	Q9H2J1	CI037_HUMAN	Homo sapiens chromosome 9 open reading frame 37 (C9orf37), mRNA.	116										breast(1)|large_intestine(2)	3	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)		ACGTCTCCAAGGCCTGAAAGG	0.657000														25			13		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54306874	54306874	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:54306874G>A	uc021smr.1	+	0	1774	c.1774G>A	c.(1774-1776)Gaa>Aaa	p.E592K	UNC13C_uc021sms.1_Missense_Mutation_p.E592K	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	592					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GAGGAAACAGGAAGGAACAGC	0.458000														35			10		0	0	1	0	0
NRIP1	8204	broad.mit.edu	37	21	16337700	16337700	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr21:16337700C>T	uc021whl.1	-	0	2814	c.2814G>A	c.(2812-2814)caG>caA	p.Q938Q	NRIP1_uc002yjx.2_Silent_p.Q938Q	NM_003489	NP_003480	P48552	NRIP1_HUMAN	Homo sapiens nuclear receptor interacting protein 1 (NRIP1), mRNA.	938					androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		AGAGAAGCAGCTGTTTCAGAA	0.433000														61			32		0	0	1	0	0
GPX5	2880	broad.mit.edu	37	6	28497338	28497338	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:28497338C>T	uc003nll.2	+	1	200	c.198C>T	c.(196-198)ttC>ttT	p.F66F	GPX5_uc003nlm.2_Silent_p.F66F|GPX5_uc003nln.2_Non-coding_Transcript	NM_001509	NP_001500	O75715	GPX5_HUMAN	Homo sapiens glutathione peroxidase 5 (epididymal androgen-related protein) (GPX5), transcript variant 1, mRNA.	66					lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity	p.L65H(1)		endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	ACATCCTCTTCGTCAACGTGG	0.428000														138			34		0	0	1	0	0
CLK3	1198	broad.mit.edu	37	15	74912474	74912474	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:74912474C>T	uc010uln.2	+	2	1182	c.721C>T	c.(721-723)Cgg>Tgg	p.R241W	CLK3_uc002ayg.4_Missense_Mutation_p.R93W|CLK3_uc002ayh.4_5'UTR|CLK3_uc010ulm.1_Missense_Mutation_p.R241W|CLK3_uc002ayj.4_Missense_Mutation_p.R93W|CLK3_uc002ayk.4_5'UTR	NM_001130028	NP_003983	P49761	CLK3_HUMAN	Homo sapiens CDC-like kinase 3 (CLK3), transcript variant 1, mRNA.	241	Arg-rich.					acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						TCGTCATCGTCGGCGATCGCG	0.627000														109			62		0	0	1	0	0
DCDC5	100506627	broad.mit.edu	37	11	30938428	30938428	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:30938428C>T	uc009yjk.1	-	13	1854	c.1785G>A	c.(1783-1785)caG>caA	p.Q595Q	DCDC5_uc001mss.1_Non-coding_Transcript|DCDC5_uc021qfk.1_Silent_p.Q254Q	NM_020869	NP_065920	Q6ZRR9	DCDC5_HUMAN	Homo sapiens doublecortin domain containing 5 (DCDC5), mRNA.	226					intracellular signal transduction					NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(17)|prostate(1)|stomach(1)	31						TGTGTTTCTTCTGTGGTTCCA	0.403000														19			10		0	0	1	0	0
HAO1	54363	broad.mit.edu	37	20	7920973	7920973	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr20:7920973C>T	uc002wmw.1	-	0	121	c.97G>A	c.(97-99)Gat>Aat	p.D33N	HAO1_uc010gbu.3_Missense_Mutation_p.D33N	NM_017545	NP_060015	Q9UJM8	HAOX1_HUMAN	Homo sapiens hydroxyacid oxidase (glycolate oxidase) 1 (HAO1), mRNA.	33	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GTTTCTTCATCATTTGCCCCA	0.318000														29			16		0	0	1	0	0
RREB1	6239	broad.mit.edu	37	6	7229933	7229933	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:7229933C>T	uc003mxb.3	+	9	2093	c.1601C>T	c.(1600-1602)tCc>tTc	p.S534F	RREB1_uc021yky.1_Missense_Mutation_p.S534F|RREB1_uc003mxc.3_Missense_Mutation_p.S534F|RREB1_uc010jnx.3_Missense_Mutation_p.S534F|RREB1_uc021ykz.1_Missense_Mutation_p.S534F|RREB1_uc021yla.1_Intron	NM_001003699	NP_001003699	Q92766	RREB1_HUMAN	Homo sapiens ras responsive element binding protein 1 (RREB1), transcript variant 1, mRNA.	534	Pro-rich.				Ras protein signal transduction|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CAGCAGGCTTCCCCGGGCTGT	0.672000														51			21		0	0	1	0	0
TINAGL1	64129	broad.mit.edu	37	1	32050544	32050544	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:32050544C>T	uc001bta.3	+	6	890	c.764C>T	c.(763-765)tCg>tTg	p.S255L	TINAGL1_uc010ogj.2_Missense_Mutation_p.S224L|TINAGL1_uc010ogk.1_Missense_Mutation_p.S255L|TINAGL1_uc021oko.1_Missense_Mutation_p.S150L	NM_022164	NP_001191344	Q9GZM7	TINAL_HUMAN	Homo sapiens tubulointerstitial nephritis antigen-like 1 (TINAGL1), transcript variant 1, mRNA.	255					endosome transport|immune response|proteolysis	extracellular region	cysteine-type endopeptidase activity|extracellular matrix structural constituent|polysaccharide binding|scavenger receptor activity			breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)		CCTGTCCTGTCGCCCCAGAAC	0.627000														41			24		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34042401	34042401	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:34042401C>T	uc001zhi.3	+	56	8383	c.8313C>T	c.(8311-8313)acC>acT	p.T2771T	RYR3_uc010bar.3_Silent_p.T2771T	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	2771	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CATATGACACCTTGACTGCCA	0.507000														5			6		0	0	1	0	0
NT5C1B-RDH14	100526794	broad.mit.edu	37	2	18765428	18765428	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:18765428C>T	uc010exr.3	-	4	935	c.823G>A	c.(823-825)Gaa>Aaa	p.E275K	NT5C1B-RDH14_uc002rcy.3_Missense_Mutation_p.E333K|NT5C1B-RDH14_uc010yju.2_Missense_Mutation_p.E273K|NT5C1B-RDH14_uc002rcz.3_Missense_Mutation_p.E333K|NT5C1B-RDH14_uc010yjw.2_Missense_Mutation_p.E316K|NT5C1B-RDH14_uc010yjv.2_Missense_Mutation_p.E350K|NT5C1B-RDH14_uc010exs.3_Missense_Mutation_p.E335K|NT5C1B-RDH14_uc002rda.3_Missense_Mutation_p.E273K|U6_uc021vej.1_5'Flank|NT5C1B-RDH14_uc002rdb.1_Missense_Mutation_p.E125K	NM_001199103	NP_001186032	Q96P26	5NT1B_HUMAN	Homo sapiens NT5C1B-RDH14 readthrough (NT5C1B-RDH14), transcript variant 1, mRNA.	333					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding										ATGTACTTTTCCAGACCCTCT	0.552000														115			56		0	0	1	0	0
SEPT14	346288	broad.mit.edu	37	7	55874943	55874943	+	Missense_Mutation	SNP	C	T	T	rs78957351		TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:55874943C>T	uc003tqz.2	-	7	943	c.826G>A	c.(826-828)Gaa>Aaa	p.E276K		NM_207366	NP_997249	Q6ZU15	SEP14_HUMAN	Homo sapiens septin 14 (SEPT14), mRNA.	276					cell cycle|cell division	septin complex	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CAGTGATTTTCATTTTCCACT	0.313000														23			11		0	0	1	0	0
GLI2	2736	broad.mit.edu	37	2	121712934	121712934	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:121712934G>A	uc010flp.3	+	3	601	c.571G>A	c.(571-573)Ggg>Agg	p.G191R	GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.4_Intron|GLI2_uc002tmu.4_Intron|GLI2_uc002tmv.1_Intron|GLI2_uc010flo.1_Missense_Mutation_p.G66R|GLI2_uc002tmw.1_Missense_Mutation_p.G191R	NM_005270	NP_005261	P10070	GLI2_HUMAN	Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.	191					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CGCGCCCTACGGGGACCTGCT	0.667000														18			11		0	0	1	0	0
DNAJB3	414061	broad.mit.edu	37	2	234652181	234652181	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:234652181C>T	uc002vuz.3	-	0	481	c.382G>A	c.(382-384)Gaa>Aaa	p.E128K	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Intron|UGT1A1_uc002vuv.4_Intron|UGT1A1_uc010zmz.1_Intron|UGT1A1_uc002vuw.3_Intron|UGT1A1_uc010zna.1_Intron|UGT1A1_uc002vux.3_Intron|UGT1A1_uc010znb.1_Intron|UGT1A1_uc002vuy.3_Intron	NM_001001394	NP_001001394	Q8WWF6	DNJB3_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 3 (DNAJB3), mRNA.	128					protein folding		heat shock protein binding|unfolded protein binding										CCCAGCAGTTCCTCTGACCCC	0.532000														26			12		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54916148	54916148	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:54916148C>T	uc021smr.1	+	29	6349	c.6349C>T	c.(6349-6351)Cag>Tag	p.Q2117*	UNC13C_uc021sms.1_Nonsense_Mutation_p.Q2119*|UNC13C_uc002acm.3_Nonsense_Mutation_p.Q40*	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	2119	C2 2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TGAAACATTTCAGTTGTAAGT	0.403000														73			42		0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10358358	10358358	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:10358358C>T	uc002gmn.3	-	20	2446	c.2335G>A	c.(2335-2337)Gaa>Aaa	p.E779K	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	779	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.E778K(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TCTCGCATTTCCTCTAGAGTT	0.418000														45			23		0	0	1	0	0
GABPB2	126626	broad.mit.edu	37	1	151062948	151062948	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:151062948C>T	uc001ewr.2	+	2	506	c.175C>T	c.(175-177)Cga>Tga	p.R59*	GABPB2_uc010pcp.1_Nonsense_Mutation_p.R75*|GABPB2_uc001ewt.2_5'Flank	NM_144618	NP_653219	Q8TAK5	GABP2_HUMAN	Homo sapiens GA binding protein transcription factor, beta subunit 2 (GABPB2), mRNA.	59					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	protein heterodimerization activity|transcription regulatory region DNA binding			breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7)	15				all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662)		AGTACTCCTTCGAGCAGGTGT	0.507000														58			32		0	0	1	0	0
FAM19A1	407738	broad.mit.edu	37	3	68466480	68466480	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:68466480C>T	uc003dnd.3	+	2	385	c.169C>T	c.(169-171)Cgc>Tgc	p.R57C	FAM19A1_uc003dne.3_Missense_Mutation_p.R57C|FAM19A1_uc003dng.3_Missense_Mutation_p.R57C	NM_001252216	NP_001239145	Q7Z5A9	F19A1_HUMAN	Homo sapiens family with sequence similarity 19 (chemokine (C-C motif)-like), member A1 (FAM19A1), transcript variant 2, mRNA.	57						endoplasmic reticulum|extracellular region				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	7		Lung NSC(201;0.0117)		BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743)		TAACAAGAATCGCATTGAGGA	0.473000														28			17		0	0	1	0	0
TRPM4	54795	broad.mit.edu	37	19	49671293	49671293	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:49671293C>T	uc002pmw.3	+	3	495	c.387C>T	c.(385-387)gtC>gtT	p.V129V	TRPM4_uc010emu.3_Silent_p.V129V|TRPM4_uc010yak.2_Intron|TRPM4_uc002pmx.3_Intron|TRPM4_uc010emv.3_Intron|TRPM4_uc010yal.2_Intron	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 4 (TRPM4), transcript variant 1, mRNA.	129					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	Golgi apparatus|endoplasmic reticulum|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		GGGGCCCCGTCCTCCAGACCT	0.682000														73			45		0	0	1	0	0
OR2W1	26692	broad.mit.edu	37	6	29012767	29012767	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:29012767G>A	uc003nlw.2	-	0	186	c.186C>T	c.(184-186)ttC>ttT	p.F62F	LOC100129636_uc021ytq.1_Intron	NM_030903	NP_112165	Q9Y3N9	OR2W1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 1 (OR2W1), mRNA.	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						AATTTCTGAGGAAAAAGTACA	0.433000														27			66		0	0	1	0	0
RPRD2	23248	broad.mit.edu	37	1	150444338	150444338	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:150444338C>T	uc009wlr.3	+	10	3115	c.2914C>T	c.(2914-2916)Cgt>Tgt	p.R972C	RPRD2_uc010pcc.1_Intron|RPRD2_uc001eup.4_Missense_Mutation_p.R946C	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN	Homo sapiens regulation of nuclear pre-mRNA domain containing 2 (RPRD2), mRNA.	972							protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						AGTCCCACATCGTTCCCTTTT	0.577000														212			133		0	0	1	0	0
ITGA5	3678	broad.mit.edu	37	12	54794678	54794678	+	Silent	SNP	C	T	T	rs148991401	by1000genomes	TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:54794678C>T	uc001sga.3	-	24	2663	c.2595G>A	c.(2593-2595)acG>acA	p.T865T		NM_002205	NP_002196	P08648	ITA5_HUMAN	Homo sapiens integrin, alpha 5 (fibronectin receptor, alpha polypeptide) (ITGA5), mRNA.	865					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						AGTTGAGTCCCGTAACTCTGG	0.557000														22			8		0	0	1	0	0
GDF2	2658	broad.mit.edu	37	10	48414348	48414348	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:48414348C>T	uc001jfa.1	-	1	680	c.520G>A	c.(520-522)Gat>Aat	p.D174N		NM_016204	NP_057288	Q9UK05	GDF2_HUMAN	Homo sapiens growth differentiation factor 2 (GDF2), mRNA.	174					BMP signaling pathway|activin receptor signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of DNA replication|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						TCCAGAACATCATAAATGACC	0.517000														22			10		0	0	1	0	0
OR6C68	403284	broad.mit.edu	37	12	55886880	55886880	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:55886880C>T	uc010spo.2	+	0	734	c.734C>T	c.(733-735)tCt>tTt	p.S245F		NM_001005519	NP_001005519	A6NDL8	O6C68_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 68 (OR6C68), mRNA.	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C244Y(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15						TCTACCTGTTCTTCACATATT	0.348000														29			16		0	0	1	0	0
SCML4	256380	broad.mit.edu	37	6	108042083	108042083	+	Missense_Mutation	SNP	G	A	A	rs150290151		TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:108042083G>A	uc010kdf.3	-	5	1048	c.797C>T	c.(796-798)tCg>tTg	p.S266L	SCML4_uc003prz.4_Missense_Mutation_p.S208L|SCML4_uc011eam.1_Missense_Mutation_p.S266L|SCML4_uc003pry.4_Missense_Mutation_p.S24L|SCML4_uc003psa.3_Missense_Mutation_p.S237L	NM_198081	NP_932347	Q8N228	SCML4_HUMAN	Homo sapiens sex comb on midleg-like 4 (Drosophila) (SCML4), mRNA.	266					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1)	25		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)		GCAGTACAGCGAGGAGGAGGG	0.627000														9			15		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21139052	21139052	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:21139052C>T	uc010vbe.2	-	7	1164	c.1164G>A	c.(1162-1164)gtG>gtA	p.V388V	DNAH3_uc002die.2_Silent_p.V359V	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	388	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GTTTCTGGATCACATCCCAAA	0.488000														75			50		0	0	1	0	0
DENND3	22898	broad.mit.edu	37	8	142148162	142148162	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:142148162C>T	uc003yvy.3	+	2	465	c.187C>T	c.(187-189)Cac>Tac	p.H63Y	DENND3_uc003yvw.1_Missense_Mutation_p.H76Y|DENND3_uc003yvx.3_Missense_Mutation_p.H143Y|DENND3_uc010mep.3_Missense_Mutation_p.H76Y	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	Homo sapiens DENN/MADD domain containing 3 (DENND3), mRNA.	63	UDENN.									breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			GGATTGCGTCCACTTCCTGGT	0.582000														4			18		0	0	1	0	0
NXPH2	11249	broad.mit.edu	37	2	139428785	139428785	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:139428785C>T	uc002tvi.3	-	1	502	c.502G>A	c.(502-504)Gaa>Aaa	p.E168K		NM_007226	NP_009157	O95156	NXPH2_HUMAN	Homo sapiens neurexophilin 2 (NXPH2), mRNA.	168	III.				neuropeptide signaling pathway	extracellular region				endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3)	22				BRCA - Breast invasive adenocarcinoma(221;0.101)		ACTTCAAATTCCACCACCTTG	0.458000														14			8		0	0	1	0	0
BMP1	649	broad.mit.edu	37	8	22033807	22033807	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:22033807C>T	uc003xbg.3	+	2	680	c.414C>T	c.(412-414)gtC>gtT	p.V138V	BMP1_uc011kzb.2_Non-coding_Transcript|BMP1_uc003xbf.3_5'UTR|BMP1_uc003xbb.3_Silent_p.V138V|BMP1_uc003xbc.3_5'UTR|BMP1_uc003xbd.3_Non-coding_Transcript|BMP1_uc003xbe.3_Non-coding_Transcript|BMP1_uc011kzc.2_5'UTR|BMP1_uc003xbh.3_Non-coding_Transcript|BMP1_uc003xbi.3_Non-coding_Transcript	NM_006129	NP_006120	P13497	BMP1_HUMAN	Homo sapiens bone morphogenetic protein 1 (BMP1), transcript variant 3, mRNA.	138	Metalloprotease.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		TCCCCTTTGTCATTGGGGGAA	0.647000														11			13		0	0	1	0	0
IGSF21	84966	broad.mit.edu	37	1	18703912	18703912	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:18703912G>A	uc001bau.2	+	8	1703	c.1320G>A	c.(1318-1320)acG>acA	p.T440T	IGSF21_uc001bav.2_Silent_p.T261T	NM_032880	NP_116269	Q96ID5	IGS21_HUMAN	Homo sapiens immunoglobin superfamily, member 21 (IGSF21), mRNA.	440						extracellular region				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		CAAGAGGAACGGAGGACTCTA	0.483000														58			37		0	0	1	0	0
ACPL2	92370	broad.mit.edu	37	3	140997255	140997255	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:140997255C>T	uc003etu.3	+	4	450	c.151C>T	c.(151-153)Cct>Tct	p.P51S	ACPL2_uc003etv.3_Missense_Mutation_p.P51S|ACPL2_uc011bna.2_Missense_Mutation_p.P13S|ACPL2_uc011bnb.2_Missense_Mutation_p.P34S	NM_152282	NP_689495	Q8TE99	ACPL2_HUMAN	Homo sapiens acid phosphatase-like 2 (ACPL2), transcript variant 1, mRNA.	51						extracellular region	acid phosphatase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						CATGCCCGACCCTGTGACGGA	0.552000														45			21		0	0	1	0	0
SLC22A9	114571	broad.mit.edu	37	11	63141421	63141422	+	Missense_Mutation	DNP	CC	TT	TT	rs150640442		TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:63141421_63141422CC>TT	uc001nww.3	+	3	985_986	c.717_718CC>TT	c.(715-720)tgccct>tgTTct	p.P240S	SLC22A9_uc001nwx.3_Non-coding_Transcript	NM_080866	NP_543142	Q8IVM8	S22A9_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 9 (SLC22A9), mRNA.	240					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						TGGGAATGTGCCCTTCTGGTAT	0.475000														43			12		0	0	1	0	0
CYP2C19	1557	broad.mit.edu	37	10	96534881	96534881	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:96534881G>A	uc010qnz.2	+	1	235	c.235G>A	c.(235-237)Gga>Aga	p.G79R	CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_Missense_Mutation_p.G57R	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	79					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity	p.G79*(2)|p.G79E(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	GGTGCTGCATGGATATGAAGT	0.458000														71			28		0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200974808	200974808	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:200974808C>T	uc001gvs.2	-	3	779	c.462G>A	c.(460-462)gaG>gaA	p.E154E	KIF21B_uc009wzl.2_Silent_p.E154E|KIF21B_uc001gvr.2_Silent_p.E154E|KIF21B_uc010ppn.2_Silent_p.E154E|KIF21B_uc001gvt.1_5'UTR	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	154	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GGTCAAGGATCTCCTCGTTGT	0.542000														77			49		0	0	1	0	0
CDSN	1041	broad.mit.edu	37	6	31084988	31084988	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:31084988C>T	uc003nsm.2	-	1	460	c.404G>A	c.(403-405)gGg>gAg	p.G135E	PSORS1C1_uc003nsl.2_Intron|PSORS1C1_uc010jsj.2_Intron	NM_001264	NP_001255	Q15517	CDSN_HUMAN	Homo sapiens corneodesmosin (CDSN), mRNA.	135	Ser-rich.				cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						GCTGCTGCTCCCCAGCTGGGA	0.577000														40			11		0	0	1	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68249705	68249705	+	Silent	SNP	T	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:68249705T>A	uc001xka.2	-	20	4303	c.4164A>T	c.(4162-4164)gcA>gcT	p.A1388A	ZFYVE26_uc010tsz.1_Intron|ZFYVE26_uc001xkc.4_Silent_p.A1388A	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	Homo sapiens zinc finger, FYVE domain containing 26 (ZFYVE26), mRNA.	1388					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		AGAGATTCACTGCCAGACTCT	0.562000														36			17		0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32091181	32091182	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:32091181_32091182GG>AA	uc003jhl.3	+	19	8015_8016	c.7627_7628GG>AA	c.(7627-7629)gga>AAa	p.G2543K	PDZD2_uc003jhm.3_Missense_Mutation_p.G2543K	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	2543					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CTGTCCAGGAGGAAGTGGCCCT	0.579000														28			20		0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23884682	23884682	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:23884682C>T	uc001wjx.3	-	35	5297	c.5191G>A	c.(5191-5193)Gat>Aat	p.D1731N		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	1731					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		AGGTCAGCATCCATCTTCTTC	0.542000														44			17		0	0	1	0	0
HCFC2	29915	broad.mit.edu	37	12	104459995	104459995	+	Missense_Mutation	SNP	T	G	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:104459995T>G	uc001tkj.4	+	1	317	c.214T>G	c.(214-216)Tgt>Ggt	p.C72G	HCFC2_uc009zul.3_Non-coding_Transcript|GLT8D2_uc001tki.1_5'Flank	NM_013320	NP_037452	Q9Y5Z7	HCFC2_HUMAN	Homo sapiens host cell factor C2 (HCFC2), mRNA.	72					regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						CCCTCCAGGCTGTGCTGCCCA	0.398000														89			57		0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58207430	58207430	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr13:58207430G>A	uc001vhq.1	+	0	1642	c.750G>A	c.(748-750)gtG>gtA	p.V250V	PCDH17_uc010aec.1_Silent_p.V250V	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	Homo sapiens protocadherin 17 (PCDH17), mRNA.	250	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CCTACTTGGTGGAACTGCCCG	0.582000														38			22		0	0	1	0	0
POTEF	728378	broad.mit.edu	37	2	130877858	130877858	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:130877858C>T	uc010fmh.2	-	2	631	c.231G>A	c.(229-231)aaG>aaA	p.K77K		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.	77						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						CCACGTTGCTCTTGCCACTCC	0.597000														164			58		0	0	1	0	0
OR52E6	390078	broad.mit.edu	37	11	5862225	5862225	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:5862225C>T	uc010qzq.2	-	0	903	c.903G>A	c.(901-903)agG>agA	p.R301R	TRIM5_uc001mbq.1_Intron	NM_001005167	NP_001005167	Q96RD3	O52E6_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 6 (OR52E6), mRNA.	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCACTGTCTCCCTAATATGTT	0.433000														72			24		0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152324257	152324257	+	Missense_Mutation	SNP	G	C	C	rs144200854	by1000genomes	TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:152324257G>C	uc001ezw.4	-	2	6078	c.6005C>G	c.(6004-6006)gCa>gGa	p.A2002G	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	2002							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGTGGTATCTGCTGTTTGTCC	0.517000														353			6		0	0	1	0	0
GABRA6	2559	broad.mit.edu	37	5	161116141	161116141	+	Missense_Mutation	SNP	A	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:161116141A>T	uc003lyu.2	+	3	750	c.412A>T	c.(412-414)Ata>Tta	p.I138L	GABRA6_uc003lyv.2_5'Flank	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	138					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ACTCTTCAGAATAATGCAGAA	0.373000										TCGA Ovarian(5;0.080)				24			13		0	0	1	0	0
RACGAP1P	83956	broad.mit.edu	37	12	45458398	45458398	+	RNA	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:45458398C>T	uc001rol.3	-	0		c.797G>A								Homo sapiens Rac GTPase activating protein 1 pseudogene (RACGAP1P), non-coding RNA.																		TACCTGTTTTCCTTTGGCTCC	0.522000														21			6		0	0	1	0	0
AIM1	202	broad.mit.edu	37	6	106967087	106967087	+	Silent	SNP	T	C	C			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:106967087T>C	uc003prh.3	+	1	1692	c.780T>C	c.(778-780)ttT>ttC	p.F260F		NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	Homo sapiens absent in melanoma 1 (AIM1), mRNA.	260							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		ACAATCCATTTAGCCAGCCAG	0.443000														13			18		0	0	1	0	0
SSX3	10214	broad.mit.edu	37	X	48214139	48214139	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:48214139C>T	uc004djd.1	-	2	206	c.112G>A	c.(112-114)Gaa>Aaa	p.E38K	SSX3_uc004dje.3_Missense_Mutation_p.E38K|SSX3_uc010nic.3_Missense_Mutation_p.E38K	NM_021014	NP_066294	Q99909	SSX3_HUMAN	Homo sapiens synovial sarcoma, X breakpoint 3 (SSX3), transcript variant 1, mRNA.	38	KRAB-related.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|large_intestine(1)|lung(9)	13						TTCATCTTTTCCCACTCTTCC	0.393000														3			28		0	0	1	0	0
MIA2	117153	broad.mit.edu	37	14	39722040	39722040	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:39722040G>A	uc001wux.3	+	4	1850	c.1656G>A	c.(1654-1656)tcG>tcA	p.S552S		NM_054024	NP_473365	Q96PC5	MIA2_HUMAN	Homo sapiens melanoma inhibitory activity 2 (MIA2), mRNA.	161						extracellular region				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		ATGAAAATTCGAAACCATCAG	0.378000														51			28		0	0	1	0	0
C8orf34	116328	broad.mit.edu	37	8	69380947	69380947	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:69380947C>T	uc010lyz.3	+	3	919	c.628C>T	c.(628-630)Cca>Tca	p.P210S	C8orf34_uc010lyy.2_Missense_Mutation_p.P210S|C8orf34_uc003xyb.3_Missense_Mutation_p.P99S	NM_052958	NP_443190	Q49A92	CH034_HUMAN	Homo sapiens chromosome 8 open reading frame 34 (C8orf34), transcript variant 1, mRNA.	124					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			AGTAGAGCATCCAAAGTGGAA	0.398000														21			67		0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70505242	70505242	+	Silent	SNP	A	G	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:70505242A>G	uc001dep.3	+	18	3651	c.3621A>G	c.(3619-3621)acA>acG	p.T1207T	LRRC7_uc009wbg.3_Silent_p.T491T|LRRC7_uc001deq.3_Silent_p.T448T	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	1207						centrosome|focal adhesion|nucleolus	protein binding	p.S1206C(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GCTACAGTACAGAGAGTTACG	0.458000														13			11		0	0	1	0	0
DAB1	1600	broad.mit.edu	37	1	57611094	57611094	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:57611094G>A	uc009vzx.1	-	2	396	c.76C>T	c.(76-78)Cgc>Tgc	p.R26C	DAB1_uc001cyt.1_Missense_Mutation_p.R26C|DAB1_uc001cyq.1_Missense_Mutation_p.R26C|DAB1_uc001cyr.1_Missense_Mutation_p.R26C|DAB1_uc009vzw.1_Missense_Mutation_p.R26C|DAB1_uc001cys.1_Missense_Mutation_p.R26C	NM_021080	NP_066566	O75553	DAB1_HUMAN	Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA.	26					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GCTTCACTGCGATCCTGACCT	0.458000														47			23		0	0	1	0	0
NCKIPSD	51517	broad.mit.edu	37	3	48719109	48719109	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:48719109G>A	uc003cun.3	-	4	797	c.703C>T	c.(703-705)Cca>Tca	p.P235S	NCKIPSD_uc003cum.3_Missense_Mutation_p.P228S|NCKIPSD_uc010hkh.2_Missense_Mutation_p.P235S	NM_016453	NP_057537	Q9NZQ3	SPN90_HUMAN	Homo sapiens NCK interacting protein with SH3 domain (NCKIPSD), transcript variant 1, mRNA.	235	Pro-rich.|Ser/Thr-rich.				NLS-bearing substrate import into nucleus|cytoskeleton organization|signal transduction	intermediate filament|nucleus	SH3 domain binding|cytoskeletal protein binding			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CTGGAGCCTGGTTCAGATGGG	0.657000														5			8		0	0	1	0	0
LRRC32	2615	broad.mit.edu	37	11	76371693	76371693	+	Missense_Mutation	SNP	G	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:76371693G>T	uc001oxq.4	-	2	1187	c.944C>A	c.(943-945)tCc>tAc	p.S315Y	LRRC32_uc001oxr.4_Missense_Mutation_p.S315Y|LRRC32_uc010rsf.2_Missense_Mutation_p.S315Y	NM_005512	NP_005503	Q14392	LRC32_HUMAN	Homo sapiens leucine rich repeat containing 32 (LRRC32), transcript variant 1, mRNA.	315						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						CAAGAGCTGGGAAAGGGGGCG	0.617000														14			5		0.0215528	0.0215737	1	1	0
MYH15	22989	broad.mit.edu	37	3	108118020	108118020	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:108118020C>T	uc003dxa.1	-	34	4948	c.4891G>A	c.(4891-4893)Gaa>Aaa	p.E1631K		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	1631						myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						AGGTCCTCTTCCATCTTCTTC	0.493000														53			24		0	0	1	0	0
PCSK6	5046	broad.mit.edu	37	15	101933603	101933603	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:101933603G>A	uc002bxa.2	-	8	1334	c.1020C>T	c.(1018-1020)ttC>ttT	p.F340F	PCSK6_uc010bpd.3_Silent_p.F211F|PCSK6_uc002bwy.3_Silent_p.F340F|PCSK6_uc010bpe.3_Silent_p.F337F|PCSK6_uc002bxb.2_Silent_p.F340F|PCSK6_uc002bxc.1_Silent_p.F340F|PCSK6_uc002bxd.1_Silent_p.F340F|PCSK6_uc002bxe.3_Silent_p.F340F|PCSK6_uc002bxg.1_Silent_p.F340F	NM_138320	NP_612193	P29122	PCSK6_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 6 (PCSK6), transcript variant 7, mRNA.	341	Catalytic.				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	Golgi lumen|cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity	p.F340F(4)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ATGCCCAGACGAAAATGGAGC	0.627000														29			16		0	0	1	0	0
ZHX2	22882	broad.mit.edu	37	8	123964332	123964332	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:123964332G>A	uc022bag.1	+	0	582	c.582G>A	c.(580-582)gcG>gcA	p.A194A	ZHX2_uc003ypk.1_Silent_p.A194A	NM_014943	NP_055758	Q9Y6X8	ZHX2_HUMAN	Homo sapiens zinc fingers and homeoboxes 2 (ZHX2), mRNA.	194						cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.K193N(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			AACCAAAAGCGGATGCCAAGA	0.572000														115			34		0	0	1	0	0
CYP4Z1	199974	broad.mit.edu	37	1	47564867	47564867	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:47564867C>T	uc001cqu.1	+	7	981	c.978C>T	c.(976-978)atC>atT	p.I326I		NM_178134	NP_835235	Q86W10	CP4Z1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 1 (CYP4Z1), mRNA.	326						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						TCTCCTGGATCCTTTACTGCT	0.478000														52			41		0	0	1	0	0
CYTH4	27128	broad.mit.edu	37	22	37688708	37688708	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr22:37688708C>T	uc003arf.3	+	1	182	c.66C>T	c.(64-66)atC>atT	p.I22I	CYTH4_uc003ard.4_Silent_p.I22I|CYTH4_uc003are.2_Silent_p.I22I|CYTH4_uc011amw.2_5'UTR	NM_013385	NP_037517	Q9UIA0	CYH4_HUMAN	Homo sapiens cytohesin 4 (CYTH4), mRNA.	22					regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						TACAGAGGATCAAGTGGCACC	0.607000														56			57		0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13409743	13409743	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:13409743C>T	uc002mwy.3	-	18	2940	c.2704G>A	c.(2704-2706)Gac>Aac	p.D902N	CACNA1A_uc010dzc.2_Missense_Mutation_p.D428N|CACNA1A_uc010xnd.2_Missense_Mutation_p.D905N|CACNA1A_uc021ups.1_Missense_Mutation_p.D902N|CACNA1A_uc010xne.2_Missense_Mutation_p.D905N|CACNA1A_uc010dze.2_Missense_Mutation_p.D902N|CACNA1A_uc021upt.1_Missense_Mutation_p.D903N	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	903					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GCGTGGTGGTCCGACTCGCGG	0.776000														10			7		0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14747031	14747031	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:14747031G>A	uc003zlm.3	-	34	6844	c.6028C>T	c.(6028-6030)Cca>Tca	p.P2010S	FREM1_uc010mic.3_Non-coding_Transcript|FREM1_uc003zlk.3_Non-coding_Transcript|FREM1_uc003zll.3_Missense_Mutation_p.P546S	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	2010					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CAGTTCTTTGGAAATGAGGGC	0.448000														11			3		0	0	1	0	0
HPS4	89781	broad.mit.edu	37	22	26860656	26860656	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr22:26860656G>A	uc003acl.3	-	10	1599	c.940C>T	c.(940-942)Cct>Tct	p.P314S	HPS4_uc003aci.3_Missense_Mutation_p.P309S|HPS4_uc003acj.3_Missense_Mutation_p.P178S|HPS4_uc003ack.3_Missense_Mutation_p.P105S|HPS4_uc003acn.3_Missense_Mutation_p.P160S|HPS4_uc010gvd.1_Missense_Mutation_p.P332S|HPS4_uc003ach.3_Missense_Mutation_p.P49S	NM_022081	NP_071364	Q9NQG7	HPS4_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 4 (HPS4), transcript variant 1, mRNA.	314					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						GCTTCGTCAGGGGATGTGGGA	0.592000									Hermansky-Pudlak syndrome					84			26		0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8145963	8145963	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:8145963G>A	uc002mjf.3	-	57	7394	c.7377C>T	c.(7375-7377)ttC>ttT	p.F2459F	FBN3_uc002mje.3_Silent_p.F298F	NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	2459	EGF-like 40; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						TGACACAGAGGAACTGACAGT	0.657000														39			14		0	0	1	0	0
UFSP2	55325	broad.mit.edu	37	4	186329176	186329176	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:186329176G>A	uc003ixo.2	-	8	1152	c.1035C>T	c.(1033-1035)gtC>gtT	p.V345V	UFSP2_uc003ixq.2_Silent_p.V235V	NM_018359	NP_060829	Q9NUQ7	UFSP2_HUMAN	Homo sapiens UFM1-specific peptidase 2 (UFSP2), transcript variant 1, mRNA.	345						endoplasmic reticulum|nucleus	small conjugating protein-specific protease activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)		GCCGCGATCCGACAAATGTTG	0.398000														51			3		0	0	1	0	0
SRGAP3	9901	broad.mit.edu	37	3	9066956	9066956	+	Missense_Mutation	SNP	G	A	A	rs146672079		TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:9066956G>A	uc003brf.1	-	13	2343	c.1667C>T	c.(1666-1668)tCc>tTc	p.S556F	SRGAP3_uc003brg.1_Missense_Mutation_p.S532F|SRGAP3_uc003bri.1_Non-coding_Transcript	NM_014850	NP_055665	O43295	SRGP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 3 (SRGAP3), transcript variant 1, mRNA.	556	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	p.S556F(2)	SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		TCTCTCAAAGGAATTTTTGAT	0.478000			T	RAF1	pilocytic astrocytoma									52			30		0	0	1	0	0
CNGA2	1260	broad.mit.edu	37	X	150912931	150912931	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:150912931G>A	uc004fey.1	+	6	2180	c.1956G>A	c.(1954-1956)ggG>ggA	p.G652G		NM_005140	NP_005131	Q16280	CNGA2_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 2 (CNGA2), mRNA.	652					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					TGTCTGATGGGATGAACAGCC	0.552000														8			17		0	0	1	0	0
GAD2	2572	broad.mit.edu	37	10	26589877	26589877	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:26589877G>A	uc001isp.2	+	15	2248	c.1745G>A	c.(1744-1746)gGa>gAa	p.G582E	GAD2_uc001isq.2_Missense_Mutation_p.G582E	NM_001134366	NP_001127838	Q05329	DCE2_HUMAN	Homo sapiens glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) (GAD2), transcript variant 2, mRNA.	582					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	Golgi membrane|cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	GAACGCCTTGGACAAGATTTA	0.418000														45			30		0	0	1	0	0
MAFK	7975	broad.mit.edu	37	7	1579986	1579986	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:1579986C>T	uc003skr.3	+	2	657	c.446C>T	c.(445-447)tCc>tTc	p.S149F	MAFK_uc003sks.1_Non-coding_Transcript	NM_002360	NP_002351	O60675	MAFK_HUMAN	Homo sapiens v-maf musculoaponeurotic fibrosarcoma oncogene homolog K (avian) (MAFK), mRNA.	149					blood coagulation	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity						Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.75e-15)		TCCTCCACCTCCGTGCCCTTC	0.736000														13			4		0	0	1	0	0
ADD2	119	broad.mit.edu	37	2	70890850	70890850	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:70890850C>T	uc021vjc.1	-	15	2153	c.1888G>A	c.(1888-1890)Gaa>Aaa	p.E630K	ADD2_uc010fds.2_Non-coding_Transcript|ADD2_uc002sgy.3_3'UTR|ADD2_uc002sgz.3_Missense_Mutation_p.E630K	NM_001185054	NP_001608	P35612	ADDB_HUMAN	Homo sapiens adducin 2 (beta) (ADD2), transcript variant 5, mRNA.	630					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	F-actin capping protein complex|cytoplasm|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						TTGCTTGTTTCTGTCTTCTTA	0.507000														15			8		0	0	1	0	0
FAM129B	64855	broad.mit.edu	37	9	130280114	130280114	+	Missense_Mutation	SNP	G	C	C			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:130280114G>C	uc004brh.3	-	5	898	c.696C>G	c.(694-696)aaC>aaG	p.N232K	FAM129B_uc004bri.3_Missense_Mutation_p.N219K|FAM129B_uc004brj.4_Missense_Mutation_p.N232K	NM_022833	NP_073744	Q96TA1	NIBL1_HUMAN	Homo sapiens family with sequence similarity 129, member B (FAM129B), transcript variant 1, mRNA.	232							protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						CCTGCACCTCGTTCCCACACA	0.622000														26			12		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228402711	228402711	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:228402711G>A	uc009xez.1	+	4	1784	c.1740G>A	c.(1738-1740)gcG>gcA	p.A580A	OBSCN_uc001hsn.3_Silent_p.A580A|AK056556_uc001hsm.1_5'Flank	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	580	Fibronectin type-III 1.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTGATGTGGCGGAGGAGGGGA	0.592000														4			8		0	0	1	0	0
CCDC102B	79839	broad.mit.edu	37	18	66564645	66564645	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr18:66564645G>A	uc002lkk.2	+	7	1466	c.1243G>A	c.(1243-1245)Gat>Aat	p.D415N	CCDC102B_uc002lki.2_Missense_Mutation_p.D415N|CCDC102B_uc002lkj.1_Missense_Mutation_p.D415N	NM_001093729	NP_079057	Q68D86	C102B_HUMAN	Homo sapiens coiled-coil domain containing 102B (CCDC102B), transcript variant 1, mRNA.	415										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				GTCACAAATTGATCTGCAAGA	0.408000														188			55		0	0	1	0	0
CNTRL	11064	broad.mit.edu	37	9	123858837	123858837	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:123858837C>T	uc004bkx.1	+	3	648	c.617C>T	c.(616-618)tCa>tTa	p.S206L	CNTRL_uc004bkw.2_Missense_Mutation_p.S206L	NM_007018	NP_008949	Q7Z7A1	CNTRL_HUMAN	Homo sapiens centriolin (CNTRL), mRNA.	206					G2/M transition of mitotic cell cycle|cell division	centrosome|cytosol	protein binding	p.S206L(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						AACAAGATATCATCGGTAAGT	0.284000														59			25		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196866423	196866423	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:196866423G>A	uc002utj.4	-	10	1250	c.1149C>T	c.(1147-1149)ttC>ttT	p.F383F		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	383	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTAAGTCCGTGAAATCTTGCA	0.368000														59			28		0	0	1	0	0
OR6K6	128371	broad.mit.edu	37	1	158725001	158725001	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:158725001C>T	uc001fsw.1	+	0	396	c.396C>T	c.(394-396)ttC>ttT	p.F132F		NM_001005184	NP_001005184	Q8NGW6	OR6K6_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 6 (OR6K6), mRNA.	132					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					TGTACTTTTTCCACTCACTTG	0.493000														38			16		0	0	1	0	0
C7	730	broad.mit.edu	37	5	40976935	40976935	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:40976935G>A	uc003jmh.3	+	15	2272	c.2158G>A	c.(2158-2160)Gaa>Aaa	p.E720K	C7_uc011cpn.1_Non-coding_Transcript	NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	720	Complement control factor I module 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				AATGCCCTACGAATGTGGGTA	0.388000														6			6		0	0	1	0	0
CAPN13	92291	broad.mit.edu	37	2	30973992	30973992	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:30973992G>A	uc021vfn.1	-	9	1245	c.1213C>T	c.(1213-1215)Cca>Tca	p.P405S	CAPN13_uc021vfm.1_Missense_Mutation_p.P405S|CAPN13_uc002rnp.1_Missense_Mutation_p.P405S	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN	Homo sapiens calpain 13 (CAPN13), mRNA.	405					proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	p.P405S(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					AAATCGAGTGGAAATTTTGCA	0.463000														21			7		0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84694037	84694037	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:84694037G>A	uc002bjz.4	+	26	4729	c.4505G>A	c.(4504-4506)gGa>gAa	p.G1502E	ADAMTSL3_uc010bmt.1_Missense_Mutation_p.G1502E	NM_207517	NP_997400	P82987	ATL3_HUMAN	Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.	1502	TSP type-1 9.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGCGGTGAAGGATACCACAGT	0.517000														36			22		0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183714696	183714696	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:183714696G>A	uc003ivd.1	+	24	6946	c.6871G>A	c.(6871-6873)Gaa>Aaa	p.E2291K		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	2291					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		CAGTGGGGATGAATTCTATAT	0.423000														20			4		0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13323301	13323301	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:13323301G>A	uc002mwy.3	-	41	6322	c.6086C>T	c.(6085-6087)tCc>tTc	p.S2029F	CACNA1A_uc002mwx.3_Missense_Mutation_p.S735F|CACNA1A_uc010dzc.2_Missense_Mutation_p.S1555F|CACNA1A_uc010xnd.2_Missense_Mutation_p.S2032F|CACNA1A_uc021ups.1_Missense_Mutation_p.S2029F|CACNA1A_uc010xne.2_Missense_Mutation_p.S2032F|CACNA1A_uc010dze.2_Missense_Mutation_p.S2029F|CACNA1A_uc021upt.1_Missense_Mutation_p.S2030F|CACNA1A_uc002mwv.3_Missense_Mutation_p.S546F	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	2030					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GGTCACCCAGGACGGGCTCTC	0.642000														1			4		0	0	1	0	0
OR4N3P	390539	broad.mit.edu	37	15	22414338	22414338	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:22414338G>A	uc001yuf.3	+	0	877	c.637G>A	c.(637-639)Gaa>Aaa	p.E213K	abParts_uc001yuj.2_Intron					Homo sapiens olfactory receptor, family 4, subfamily N, member 3 pseudogene (OR4N3P), non-coding RNA.																		TCATAACCAGGAAGTGAAAGC	0.378000														36			5		0	0	1	0	0
MAP4	4134	broad.mit.edu	37	3	47912453	47912453	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:47912453G>A	uc003csb.2	-	12	3235	c.2709C>T	c.(2707-2709)ttC>ttT	p.F903F	MAP4_uc003csc.3_Silent_p.F903F|MAP4_uc003crw.2_Silent_p.F35F|MAP4_uc003crx.2_Silent_p.F163F|MAP4_uc011bbe.1_Silent_p.F654F|MAP4_uc003csa.3_Silent_p.F638F|MAP4_uc003crz.4_Non-coding_Transcript|MAP4_uc003csd.2_Silent_p.F638F	NM_002375	NP_002366	P27816	MAP4_HUMAN	Homo sapiens microtubule-associated protein 4 (MAP4), transcript variant 1, mRNA.	903					negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		TCTTGTCTATGAAAGGAGTTG	0.622000														38			20		0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	160968945	160968945	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:160968945C>T	uc003qtl.3	-	32	5300	c.5180G>A	c.(5179-5181)gGa>gAa	p.G1727E		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	4235	Kringle 16.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GCCCCGGTATCCTTTCCCATT	0.483000														23			29		0	0	1	0	0
MUC6	4588	broad.mit.edu	37	11	1029076	1029076	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:1029076G>A	uc001lsw.2	-	10	1401	c.1350C>T	c.(1348-1350)tcC>tcT	p.S450S		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	450	VWFD 2.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CAGCCACCAGGGAGGTCTCGG	0.677000														14			6		0	0	1	0	0
FAM129A	116496	broad.mit.edu	37	1	184764240	184764240	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:184764240G>A	uc001gra.3	-	13	2852	c.2658C>T	c.(2656-2658)gcC>gcT	p.A886A	FAM129A_uc001grb.1_Intron	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN	Homo sapiens family with sequence similarity 129, member A (FAM129A), transcript variant 2, mRNA.	886					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						CATGAATACGGGCTACCTTGA	0.562000														36			57		0	0	1	0	0
PYDC2	152138	broad.mit.edu	37	3	191179085	191179085	+	Missense_Mutation	SNP	C	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:191179085C>A	uc011bso.2	+	0	134	c.134C>A	c.(133-135)aCa>aAa	p.T45K		NM_001083308	NP_001076777	Q56P42	PYDC2_HUMAN	Homo sapiens pyrin domain containing 2 (PYDC2), mRNA.	45	DAPIN.					cytoplasm|nucleus		p.T45R(2)		breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10						GTCCCCCAGACAGAGGTAGAC	0.532000														65			32		5.91797e-21	6.01408e-21	1	1	0
COL8A2	1296	broad.mit.edu	37	1	36564386	36564386	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:36564386C>T	uc001bzv.2	-	1	903	c.896G>A	c.(895-897)gGg>gAg	p.G299E	COL8A2_uc001bzw.2_Missense_Mutation_p.G234E	NM_005202	NP_005193	P25067	CO8A2_HUMAN	Homo sapiens collagen, type VIII, alpha 2 (COL8A2), mRNA.	299	Triple-helical region.				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCCTGGCTCCCCTTTGGCCCC	0.701000														13			3		0	0	1	0	0
NOS2	4843	broad.mit.edu	37	17	26101399	26101399	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:26101399G>A	uc002gzu.3	-	11	1624	c.1360C>T	c.(1360-1362)Cgt>Tgt	p.R454C	NOS2_uc010crh.1_Missense_Mutation_p.R454C|NOS2_uc010wab.1_Missense_Mutation_p.R454C	NM_000625	NP_000616	P35228	NOS2_HUMAN	Homo sapiens nitric oxide synthase 2, inducible (NOS2), mRNA.	454					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	FMN binding|NADP binding|arginine binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	CAGCCCCCACGGGACCGGTAT	0.557000														57			36		0	0	1	0	0
PMS1	5378	broad.mit.edu	37	2	190738236	190738236	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:190738236G>A	uc002urh.4	+	11	3017	c.2488G>A	c.(2488-2490)Gaa>Aaa	p.E830K	PMS1_uc002urk.4_Missense_Mutation_p.E791K|PMS1_uc002uri.4_Missense_Mutation_p.E668K|PMS1_uc010zgc.2_Missense_Mutation_p.E654K|PMS1_uc010zgd.2_Missense_Mutation_p.E654K|PMS1_uc002urj.3_Non-coding_Transcript|PMS1_uc010fry.1_Silent_p.L662L|PMS1_uc010frz.3_Intron|PMS1_uc002url.3_Missense_Mutation_p.E453K|PMS1_uc002urm.3_Non-coding_Transcript	NM_000534	NP_000525	P54277	PMS1_HUMAN	Homo sapiens PMS1 postmeiotic segregation increased 1 (S. cerevisiae) (PMS1), transcript variant 1, mRNA.	830					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			TTCAATTACTGAAAATTACTT	0.269000			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)						22			17		0	0	1	0	0
C1orf129	80133	broad.mit.edu	37	1	170952613	170952613	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:170952613C>T	uc010plz.2	+	8	821	c.667C>T	c.(667-669)Cct>Tct	p.P223S	C1orf129_uc001ghg.3_Missense_Mutation_p.P223S|C1orf129_uc009wvy.3_Missense_Mutation_p.P30S	NM_001163629	NP_001157101	Q5TGP6	CA129_HUMAN	Homo sapiens chromosome 1 open reading frame 129 (C1orf129), transcript variant 1, mRNA.	223							binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(16)|pancreas(1)|prostate(1)|skin(3)	45	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CCTCCAGTTTCCTTCTTCTGA	0.373000														19			9		0	0	1	0	0
ZFP64	55734	broad.mit.edu	37	20	50701142	50701142	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr20:50701142G>A	uc002xwk.3	-	8	2241	c.1892C>T	c.(1891-1893)tCc>tTc	p.S631F	ZFP64_uc002xwj.3_Missense_Mutation_p.S412F	NM_199427	NP_955459	Q9NPA5	ZF64A_HUMAN	Homo sapiens zinc finger protein 64 homolog (mouse) (ZFP64), transcript variant 4, mRNA.	476					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						CTGCCCCACGGAGACCAGGGT	0.597000														35			21		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	107087363	107087363	+	RNA	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:107087363C>T	uc021ser.1	-	126		c.5450G>A								Parts of antibodies, mostly variable regions.																		AGACCCACTCCAAACCCTTTC	0.507000														25			7		0	0	1	0	0
TRBV7-3	28595	broad.mit.edu	37	7	142247184	142247184	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:142247184C>T	uc003vyd.4	-	1	297	c.272G>A	c.(271-273)gGa>gAa	p.G91E	TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Intron					SubName: Full=V_segment translation product; Flags: Fragment;																		AGAGACGGATCCCTCAGGCCT	0.572000														53			33		0	0	1	0	0
OR6C1	390321	broad.mit.edu	37	12	55715062	55715062	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:55715062C>T	uc010spi.2	+	0	679	c.679C>T	c.(679-681)Cct>Tct	p.P227S		NM_001005182	NP_001005182	Q96RD1	OR6C1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 1 (OR6C1), mRNA.	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						TTTGAGAATTCCTTCTACTAG	0.378000														40			16		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9090748	9090748	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:9090748G>A	uc002mkp.3	-	0	1271	c.1067C>T	c.(1066-1068)tCc>tTc	p.S356F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	356	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S356P(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGCTTTGTGGATATTGATGG	0.483000														23			12		0	0	1	0	0
CD6	923	broad.mit.edu	37	11	60780970	60780970	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:60780970G>A	uc001nqq.3	+	6	1451	c.1226G>A	c.(1225-1227)gGa>gAa	p.G409E	CD6_uc009yni.3_Missense_Mutation_p.G308E|CD6_uc009ynj.3_Missense_Mutation_p.G286E|CD6_uc001nqp.3_Missense_Mutation_p.G409E|CD6_uc001nqs.3_Non-coding_Transcript|CD6_uc001nqr.3_Missense_Mutation_p.G409E|CD6_uc001nqt.3_Missense_Mutation_p.G409E	NM_006725	NP_006716	P30203	CD6_HUMAN	Homo sapiens CD6 molecule (CD6), transcript variant 1, mRNA.	409					cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						ATCGTTCTGGGAATTCTCCTC	0.458000														132			63		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9002624	9002624	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:9002624G>A	uc002mkp.3	-	50	40396	c.40192C>T	c.(40192-40194)Cgt>Tgt	p.R13398C	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Missense_Mutation_p.R215C|MUC16_uc021uog.1_Non-coding_Transcript	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13400	SEA 9.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.R13398C(1)|p.R83C(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGGTCAGGACGATGGGTGCAG	0.572000														40			30		0	0	1	0	0
LGR6	59352	broad.mit.edu	37	1	202270330	202270330	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:202270330C>T	uc001gxu.3	+	8	896	c.896C>T	c.(895-897)tCg>tTg	p.S299L	LGR6_uc001gxv.3_Missense_Mutation_p.S247L|LGR6_uc009xab.3_Non-coding_Transcript|LGR6_uc001gxw.3_Missense_Mutation_p.S160L|LGR6_uc009xac.1_Non-coding_Transcript	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 6 (LGR6), transcript variant 1, mRNA.	299						integral to membrane|plasma membrane	protein-hormone receptor activity	p.S299_A300insGRS(1)|p.299_300insGRS(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						GTGGGAAGATCGGCATTCCAG	0.488000														23			16		0	0	1	0	0
MAGEC2	51438	broad.mit.edu	37	X	141290653	141290653	+	Splice_Site	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:141290653C>T	uc022cfj.1	-	1	1122	c.1122_splice	c.e1+1	p.*374_splice	MAGEC2_uc004fbu.2_Silent_p.*374*	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	Homo sapiens melanoma antigen family C, 2 (MAGEC2), mRNA.	0						cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTAGACTTCACTCAGAAAA	0.507000										HNSCC(46;0.14)				9			22		0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8465562	8465562	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:8465562C>T	uc003zkk.3	-	31	4361	c.3618G>A	c.(3616-3618)ggG>ggA	p.G1206G	PTPRD_uc003zkp.3_Silent_p.G795G|PTPRD_uc003zkq.3_Silent_p.G795G|PTPRD_uc003zkr.3_Silent_p.G790G|PTPRD_uc003zks.3_Silent_p.G785G|PTPRD_uc022bdj.1_Silent_p.G792G	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	1206					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GCTTGTCATCCCCCAGGGTGA	0.428000										TSP Lung(15;0.13)				77			45		0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	97251387	97251387	+	Splice_Site	SNP	A	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:97251387A>T	uc010how.1	+	11	2429	c.2386_splice	c.e11+1	p.R796_splice	EPHA6_uc011bgo.1_Splice_Site|EPHA6_uc011bgp.1_Splice_Site_p.R162_splice|EPHA6_uc003drs.4_Splice_Site_p.R188_splice|EPHA6_uc003drr.4_Splice_Site_p.R188_splice|EPHA6_uc003drt.3_Splice_Site_p.R188_splice|EPHA6_uc010hox.1_Splice_Site	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	701	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TGTCACCAAAAGTAAGTTACT	0.368000														21			11		0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121761118	121761118	+	Silent	SNP	G	A	A	rs142918972	by1000genomes	TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:121761118G>A	uc003ksw.1	+	4	1280	c.1074G>A	c.(1072-1074)gcG>gcA	p.A358A	SNCAIP_uc011cwl.1_Intron|SNCAIP_uc010jct.3_Silent_p.A358A|SNCAIP_uc003ksy.1_Intron|SNCAIP_uc003ksx.1_Silent_p.A405A|SNCAIP_uc003ksz.1_Intron|SNCAIP_uc010jcu.2_Intron|SNCAIP_uc011cwm.1_Intron|SNCAIP_uc003kta.1_Intron|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Silent_p.A52A|SNCAIP_uc010jcx.1_Intron	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	358					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		ATATTGCGGCGTCACAGGGAC	0.458000														73			48		0	0	1	0	0
TNFSF10	8743	broad.mit.edu	37	3	172241143	172241143	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:172241143C>T	uc003fid.3	-	0	155	c.32G>A	c.(31-33)aGc>aAc	p.S11N	TNFSF10_uc021xhk.1_Non-coding_Transcript|TNFSF10_uc003fie.3_Missense_Mutation_p.S11N|TNFSF10_uc010hwu.2_Missense_Mutation_p.S11N	NM_003810	NP_003801	P50591	TNF10_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 10 (TNFSF10), transcript variant 1, mRNA.	11					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane|soluble fraction	cytokine activity|metal ion binding|tumor necrosis factor receptor binding			breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			CTGTCCCAGGCTGGGTCCCCC	0.547000														66			30		0	0	1	0	0
HUNK	30811	broad.mit.edu	37	21	33340583	33340583	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr21:33340583C>T	uc002yph.3	+	5	1256	c.896C>T	c.(895-897)tCt>tTt	p.S299F		NM_014586	NP_055401	P57058	HUNK_HUMAN	Homo sapiens hormonally up-regulated Neu-associated kinase (HUNK), mRNA.	299	Protein kinase.				multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						TTCCTGCGCTCTCTCCTGGAA	0.527000														75			22		0	0	1	0	0
TRBV2	28620	broad.mit.edu	37	7	142000977	142000977	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:142000977C>T	uc011kro.1	+	1	114	c.69C>T	c.(67-69)gtC>gtT	p.V23V	TRBV2_uc022amx.1_Non-coding_Transcript|TRBV2_uc022amy.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		AACCTGAAGTCACCCAGACTC	0.418000														21			5		0	0	1	0	0
NFATC1	4772	broad.mit.edu	37	18	77170515	77170515	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr18:77170515C>T	uc010xfg.2	+	1	693	c.240C>T	c.(238-240)atC>atT	p.I80I	NFATC1_uc002lnc.1_Silent_p.I80I|NFATC1_uc010xff.1_Silent_p.I80I|NFATC1_uc002lnd.3_Silent_p.I80I|NFATC1_uc002lne.3_Intron|NFATC1_uc010xfh.2_Silent_p.I80I|NFATC1_uc010xfi.1_Silent_p.I67I|NFATC1_uc010xfj.2_Intron|NFATC1_uc002lnf.3_Silent_p.I67I|NFATC1_uc002lng.3_Silent_p.I67I|NFATC1_uc010xfk.2_Silent_p.I67I	NM_006162	NP_006153	O95644	NFAC1_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 (NFATC1), transcript variant 2, mRNA.	80					intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		CGGGCATCATCCCGCCGGCGG	0.711000														47			56		0	0	1	0	0
GTSE1	51512	broad.mit.edu	37	22	46724658	46724658	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr22:46724658C>T	uc011aqy.2	+	9	2010	c.1798C>T	c.(1798-1800)Cct>Tct	p.P600S	GTSE1_uc011aqz.2_Missense_Mutation_p.P447S|GTSE1_uc003bhm.1_Missense_Mutation_p.P225S|GTSE1_uc003bhn.3_5'Flank|BC069212_uc011ara.2_5'Flank|BC069212_uc003bho.4_5'Flank	NM_016426	NP_057510	Q9NYZ3	GTSE1_HUMAN	Homo sapiens G-2 and S-phase expressed 1 (GTSE1), mRNA.	581					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		CAGGGGTTCTCCTCCTTCCCG	0.493000														58			65		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24922810	24922810	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:24922810C>T	uc001ywo.3	+	0	2270	c.1796C>T	c.(1795-1797)tCt>tTt	p.S599F		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	599					cell differentiation|multicellular organismal development|spermatogenesis			p.S598R(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		AGAGTGAGCTCTCTCCCAAAT	0.468000														41			24		0	0	1	0	0
PPFIBP1	8496	broad.mit.edu	37	12	27840387	27840387	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:27840387C>T	uc001ric.2	+	23	2712	c.2335C>T	c.(2335-2337)Ctg>Ttg	p.L779L	PPFIBP1_uc010sjr.1_Silent_p.L610L|PPFIBP1_uc001rib.2_Silent_p.L773L|PPFIBP1_uc001ria.3_Silent_p.L748L|PPFIBP1_uc001rid.2_Silent_p.L626L|PPFIBP1_uc001rif.2_Silent_p.L286L|TRNA_Lys_uc021qwh.1_5'Flank	NM_177444	NP_803193	Q86W92	LIPB1_HUMAN	Homo sapiens PTPRF interacting protein, binding protein 1 (liprin beta 1) (PPFIBP1), transcript variant 2, mRNA.	779	SAM 2.				cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					CATCCAGGTCCTGAGGATCAA	0.448000														56			46		0	0	1	0	0
CLPX	10845	broad.mit.edu	37	15	65458980	65458980	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:65458980G>A	uc002aom.3	-	3	574	c.502C>T	c.(502-504)Ccc>Tcc	p.P168S	CLPX_uc010uiu.2_Non-coding_Transcript|CLPX_uc010bhg.1_Missense_Mutation_p.P168S	NM_006660	NP_006651	O76031	CLPX_HUMAN	Homo sapiens ClpX caseinolytic peptidase X homolog (E. coli) (CLPX), mRNA.	168					protein folding|proteolysis involved in cellular protein catabolic process	mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid	ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	16						TTCTTAGGGGGAGGTGGTGGT	0.388000														89			37		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9064314	9064315	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:9064314_9064315GG>AA	uc002mkp.3	-	2	23335_23336	c.23131_23132CC>TT	c.(23131-23133)ccc>TTc	p.P7711F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7713	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P7711P(1)|p.I7710I(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGGAGAGGGGGGGATATGTGCT	0.545000														34			26		0	0	1	0	0
CCDC64	92558	broad.mit.edu	37	12	120509467	120509467	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:120509467C>T	uc001txl.1	+	4	976	c.951C>T	c.(949-951)tcC>tcT	p.S317S	CCDC64_uc001txk.2_Silent_p.S317S|CCDC64_uc009zwv.1_Non-coding_Transcript|CCDC64_uc010sze.1_Silent_p.S61S|CCDC64_uc010szf.1_5'UTR	NM_207311	NP_997194	Q6ZP65	BICR1_HUMAN	Homo sapiens coiled-coil domain containing 64 (CCDC64), mRNA.	317					Golgi to secretory granule transport|neuron projection development	centrosome	Rab GTPase binding|dynactin binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGCGTCTCTCCTGCCGACAGC	0.527000														29			18		0	0	1	0	0
PPFIA2	8499	broad.mit.edu	37	12	81741521	81741521	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:81741521C>T	uc001szo.2	-	17	2184	c.2023G>A	c.(2023-2025)Gag>Aag	p.E675K	PPFIA2_uc010sug.2_Non-coding_Transcript|PPFIA2_uc021rbg.1_Missense_Mutation_p.E601K|PPFIA2_uc021rbh.1_Missense_Mutation_p.E576K|PPFIA2_uc021rbi.1_Missense_Mutation_p.E675K|PPFIA2_uc021rbj.1_Missense_Mutation_p.E675K|PPFIA2_uc021rbk.1_Missense_Mutation_p.E657K|PPFIA2_uc021rbl.1_Missense_Mutation_p.E675K|PPFIA2_uc010sue.2_Intron|PPFIA2_uc021rbe.1_Missense_Mutation_p.E242K|PPFIA2_uc021rbf.1_5'UTR	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 (PPFIA2), transcript variant 1, mRNA.	601										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						GCACGCAACTCTGTAGATTCT	0.398000														33			26		0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	68950487	68950487	+	Missense_Mutation	SNP	C	T	T	rs138740482		TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:68950487C>T	uc003xxv.1	+	6	826	c.799C>T	c.(799-801)Ctt>Ttt	p.L267F	PREX2_uc003xxu.1_Missense_Mutation_p.L267F|PREX2_uc011lez.1_Missense_Mutation_p.L202F	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	267	PH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding	p.L267F(2)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GGTGTTTTTTCTTTTCGATAA	0.408000														3			24		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140857474	140857474	+	Missense_Mutation	SNP	C	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:140857474C>A	uc003lkv.2	+	0	1906	c.1791C>A	c.(1789-1791)gaC>gaA	p.D597E	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc003lkt.2_Intron|PCDHGC5_uc003lku.1_Missense_Mutation_p.D597E|PCDHGC5_uc003lkw.2_Intron	NM_002588	NP_002579	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily C, 3 (PCDHGC3), transcript variant 1, mRNA.	596	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGGCTGGGACGCGGATGCAG	0.602000											OREG0016865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		24			14		1.5842e-08	1.59735e-08	1	1	0
DSC3	1825	broad.mit.edu	37	18	28598119	28598119	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr18:28598119G>A	uc002kwj.4	-	8	1336	c.1181C>T	c.(1180-1182)aCc>aTc	p.T394I	DSC3_uc002kwi.4_Missense_Mutation_p.T394I	NM_001941	NP_001932	Q14574	DSC3_HUMAN	Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.	394	Cadherin 3.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			CTTTAAAATGGTAAAATTGAC	0.313000														75			26		0	0	1	0	0
ZNF385D	79750	broad.mit.edu	37	3	21467023	21467023	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:21467023G>A	uc003cce.3	-	5	1221	c.813C>T	c.(811-813)atC>atT	p.I271I		NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	Homo sapiens zinc finger protein 385D (ZNF385D), mRNA.	271						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						GCACATCACAGATTTCACAGT	0.433000														68			39		0	0	1	0	0
HS6ST3	266722	broad.mit.edu	37	13	97484941	97484941	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr13:97484941C>T	uc001vmw.3	+	1	929	c.905C>T	c.(904-906)aCc>aTc	p.T302I		NM_153456	NP_703157	Q8IZP7	H6ST3_HUMAN	Homo sapiens heparan sulfate 6-O-sulfotransferase 3 (HS6ST3), mRNA.	302						integral to membrane	sulfotransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					ATGGATTGCACCTACAACCTG	0.542000														43			19		0	0	1	0	0
GABRB2	2561	broad.mit.edu	37	5	160721238	160721238	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:160721238C>T	uc003lys.1	-	10	1607	c.1389G>A	c.(1387-1389)aaG>aaA	p.K463K	GABRB2_uc011deh.1_Silent_p.K264K|GABRB2_uc003lyr.1_Silent_p.K425K|GABRB2_uc003lyt.1_Silent_p.K425K	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 2 (GABRB2), transcript variant 1, mRNA.	463					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GGCGACTTTTCTTTTGCGCCA	0.522000														21			14		0	0	1	0	0
SLC9A7	84679	broad.mit.edu	37	X	46466476	46466476	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:46466476C>T	uc004dgu.1	-	16	2097	c.2089G>A	c.(2089-2091)Gaa>Aaa	p.E697K		NM_032591	NP_115980	Q96T83	SL9A7_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 7 (SLC9A7), mRNA.	697					regulation of pH	Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network	potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						TCCAGCACTTCCTCCGAGCTG	0.602000														2			17		0	0	1	0	0
NPAS2	4862	broad.mit.edu	37	2	101598822	101598822	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:101598822C>T	uc010yvt.1	+	15	1809	c.1807C>T	c.(1807-1809)Cag>Tag	p.Q603*	NPAS2_uc002tap.1_Nonsense_Mutation_p.Q538*|NPAS2_uc010fit.1_Nonsense_Mutation_p.Q116*	NM_002518	NP_002509	Q99743	NPAS2_HUMAN	Homo sapiens neuronal PAS domain protein 2 (NPAS2), mRNA.	538					central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTGCCTGGTCCAGGACTCCAA	0.627000														21			7		0	0	1	0	0
OSMR	9180	broad.mit.edu	37	5	38881697	38881697	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:38881697G>A	uc003jln.2	+	3	651	c.249G>A	c.(247-249)ggG>ggA	p.G83G	OSMR_uc003jlm.2_Silent_p.G83G	NM_003999	NP_003990	Q99650	OSMR_HUMAN	Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.	83					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					GCTTTTAGGGGAATTACAGCA	0.423000														36			26		0	0	1	0	0
PNCK	139728	broad.mit.edu	37	X	152937353	152937353	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:152937353G>A	uc011myu.2	-	4	831	c.645C>T	c.(643-645)atC>atT	p.I215I	PNCK_uc011myt.2_Silent_p.I149I|PNCK_uc004fhz.4_Silent_p.I30I|PNCK_uc010nuh.2_3'UTR|PNCK_uc011myv.2_Silent_p.I159I|PNCK_uc011myw.2_Silent_p.I159I	NM_001039582	NP_001034671	Q6P2M8	KCC1B_HUMAN	Homo sapiens pregnancy up-regulated non-ubiquitously expressed CaM kinase (PNCK), transcript variant 1, mRNA.	132	Protein kinase.					cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCGGTGCACGATCCCCAGGC	0.667000														3			7		0	0	1	0	0
BRD3	8019	broad.mit.edu	37	9	136898795	136898796	+	Missense_Mutation	DNP	AC	TT	TT			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:136898795_136898796AC>TT	uc004cew.3	-	11	2285_2286	c.2097_2098GT>AA	c.(2095-2100)ccgtcc>ccAAcc	p.S700T		NM_007371	NP_031397	Q15059	BRD3_HUMAN	Homo sapiens bromodomain containing 3 (BRD3), mRNA.	700	Ser-rich.					nucleus	protein binding		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		CTGAGCCTGGACGGGCCCCCTG	0.644000			T	C15orf55	lethal midline carcinoma of young people									4			6		0	0	1	0	0
C9orf131	138724	broad.mit.edu	37	9	35043234	35043234	+	Missense_Mutation	SNP	A	G	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:35043234A>G	uc003zvw.3	+	1	637	c.608A>G	c.(607-609)cAc>cGc	p.H203R	C9orf131_uc003zvu.3_Missense_Mutation_p.H155R|C9orf131_uc003zvv.3_Missense_Mutation_p.H130R|C9orf131_uc003zvx.3_Missense_Mutation_p.H168R	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	Homo sapiens chromosome 9 open reading frame 131 (C9orf131), transcript variant 1, mRNA.	203										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			CCCTCTCTGCACAGCGAGTCC	0.537000														58			17		0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21309087	21309087	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:21309087C>T	uc001iqk.3	-	2	562	c.208G>A	c.(208-210)Gaa>Aaa	p.E70K	NEBL_uc021pnu.1_Missense_Mutation_p.E70K	NM_213569	NP_998734	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 2, mRNA.	734					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CGAAGATTTTCAGGTGTATCT	0.408000														63			23		0	0	1	0	0
FUNDC2P2	388965	broad.mit.edu	37	2	84518245	84518245	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:84518245G>A	uc010ffz.1	+	0	440	c.303G>A	c.(301-303)atG>atA	p.M101I						Homo sapiens FUN14 domain containing 2 pseudogene 2 (FUNDC2P2), non-coding RNA.																		AGAAGGACATGAAGAAAGCCA	0.468000														36			18		0	0	1	0	0
ZNF814	730051	broad.mit.edu	37	19	58385762	58385762	+	Silent	SNP	C	G	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:58385762C>G	uc002qqo.2	-	2	1268	c.996G>C	c.(994-996)tcG>tcC	p.S332S	ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.2_Intron	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN	Homo sapiens zinc finger protein 814 (ZNF814), mRNA.	332					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.S332S(4)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ATTTGCTAAACGATTTCCCAC	0.358000														6			4		0	0	1	0	0
ULK2	9706	broad.mit.edu	37	17	19699555	19699555	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:19699555G>A	uc002gwm.4	-	18	2359	c.1850C>T	c.(1849-1851)tCc>tTc	p.S617F	ULK2_uc002gwn.3_Missense_Mutation_p.S617F	NM_001142610	NP_055498	Q8IYT8	ULK2_HUMAN	Homo sapiens unc-51-like kinase 2 (C. elegans) (ULK2), transcript variant 2, mRNA.	617					signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					TAACAGGTTGGAAGATGCTTG	0.413000														33			23		0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63174573	63174573	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:63174573G>A	uc001xfx.3	-	10	2671	c.2620C>T	c.(2620-2622)Cgt>Tgt	p.R874C	KCNH5_uc001xfy.3_3'UTR	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	874					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TTATCCAAACGAAGGTCACTT	0.507000														52			25		0	0	1	0	0
ADNP2	22850	broad.mit.edu	37	18	77895637	77895637	+	Missense_Mutation	SNP	G	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr18:77895637G>T	uc002lnw.3	+	3	2796	c.2341G>T	c.(2341-2343)Gat>Tat	p.D781Y		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	Homo sapiens ADNP homeobox 2 (ADNP2), mRNA.	781					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		CACCTTCCATGATATCAAAGG	0.468000														111			38		1.30015e-28	1.32322e-28	1	1	0
SH2B2	10603	broad.mit.edu	37	7	101960915	101960916	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:101960915_101960916GG>AA	uc011kko.2	+	6	1426_1427	c.1381_1382GG>AA	c.(1381-1383)ggc>AAc	p.G461N		NM_020979	NP_066189	O14492	SH2B2_HUMAN	Homo sapiens SH2B adaptor protein 2 (SH2B2), mRNA.	505	SH2.				blood coagulation|insulin receptor signaling pathway|intracellular signal transduction	cytosol|plasma membrane	JAK pathway signal transduction adaptor activity|SH3/SH2 adaptor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	9						GGAGTCAGGGGGCTCGGCCGAC	0.614000														39			26		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61832162	61832162	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:61832162G>A	uc001jky.3	-	36	8815	c.8477C>T	c.(8476-8478)tCt>tTt	p.S2826F	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	2826					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CTGCTGCTCAGAAAAAGAGTC	0.413000														56			26		0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12647717	12647717	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:12647717G>A	uc002gno.2	+	7	1234	c.935G>A	c.(934-936)cGa>cAa	p.R312Q	MYOCD_uc002gnn.2_Missense_Mutation_p.R312Q|MYOCD_uc002gnp.1_Missense_Mutation_p.R216Q|MYOCD_uc002gnq.2_Missense_Mutation_p.R31Q	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	312	Gln-rich.				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		cagcaacaCCGATTCAGCTAC	0.572000														8			6		0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33293756	33293756	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:33293756C>T	uc001wrq.3	+	12	6907	c.6737C>T	c.(6736-6738)cCt>cTt	p.P2246L		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA.	2246					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GAGTTTACTCCTTCAAAGCTT	0.438000														22			10		0	0	1	0	0
OR2L13	284521	broad.mit.edu	37	1	248263174	248263174	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:248263174C>T	uc001ids.3	+	2	834	c.497C>T	c.(496-498)cCc>cTc	p.P166L	OR2L13_uc021pmc.1_Missense_Mutation_p.P166L	NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 13 (OR2L13), mRNA.	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			CTTCATATTCCCTACTGCAGG	0.458000														121			54		0	0	1	0	0
OR52L1	338751	broad.mit.edu	37	11	6007810	6007810	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:6007810G>A	uc001mcd.2	-	0	406	c.351C>T	c.(349-351)atC>atT	p.I117I		NM_001005173	NP_001005173	Q8NGH7	O52L1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily L, member 1 (OR52L1), mRNA.	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G116E(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGAACATCTGGATCAGGCAGA	0.542000														15			5		0	0	1	0	0
EYA3	2140	broad.mit.edu	37	1	28326479	28326479	+	Missense_Mutation	SNP	C	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:28326479C>A	uc001bpi.2	-	11	1257	c.1075G>T	c.(1075-1077)Gac>Tac	p.D359Y	EYA3_uc010ofs.2_Missense_Mutation_p.D306Y|EYA3_uc010oft.2_Missense_Mutation_p.D313Y|EYA3_uc001bpj.3_Missense_Mutation_p.D313Y|EYA3_uc001bpk.2_Non-coding_Transcript|EYA3_uc010ofu.2_Non-coding_Transcript	NM_001990	NP_001981	Q99504	EYA3_HUMAN	Homo sapiens eyes absent homolog 3 (Drosophila) (EYA3), mRNA.	359					anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception	cytoplasm	metal ion binding|protein binding|protein tyrosine phosphatase activity			breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)		ACCTCTAAGTCATTGAAAAAT	0.318000														55			28		1.36615e-20	1.38765e-20	1	1	0
TTN	7273	broad.mit.edu	37	2	179412731	179412731	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:179412731C>T	uc021vsy.1	-	287	86143	c.85918G>A	c.(85918-85920)Gag>Aag	p.E28640K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E22335K|TTN_uc021vta.1_Missense_Mutation_p.E22268K|TTN_uc021vtb.1_Missense_Mutation_p.E22143K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	29567	Fibronectin type-III 108.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTTGAGGCTCCTTAATGATG	0.453000														9			10		0	0	1	0	0
SHROOM4	57477	broad.mit.edu	37	X	50377795	50377795	+	Silent	SNP	A	C	C			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:50377795A>C	uc004dpe.2	-	3	1304	c.1278T>G	c.(1276-1278)ctT>ctG	p.L426L	SHROOM4_uc004dpd.3_Non-coding_Transcript|SHROOM4_uc004dpf.1_Silent_p.L310L	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN	Homo sapiens shroom family member 4 (SHROOM4), transcript variant 1, mRNA.	426					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					CCCTGGTATCAAGGTGCACAT	0.577000														3			9		0	0	1	0	0
KCNT1	57582	broad.mit.edu	37	9	138662931	138662931	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:138662931C>T	uc011mdq.2	+	17	2072	c.1998C>T	c.(1996-1998)atC>atT	p.I666I	KCNT1_uc011mdr.2_Silent_p.I493I|KCNT1_uc010nbf.3_Silent_p.I621I|KCNT1_uc004cgo.1_Silent_p.I415I	NM_020822	NP_065873	B7ZVY4	B7ZVY4_HUMAN	Homo sapiens potassium channel, subfamily T, member 1 (KCNT1), mRNA.	666						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		ACAGCATCATCGCCTCCATGG	0.697000														7			4		0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115754817	115754817	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:115754817C>T	uc003ibu.3	-	11	3020	c.2341G>A	c.(2341-2343)Gaa>Aaa	p.E781K	NDST4_uc010imw.3_Non-coding_Transcript	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	781	Heparan sulfate N-sulfotransferase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TTCTGGACTTCATCCATCACA	0.368000														34			20		0	0	1	0	0
HRH1	3269	broad.mit.edu	37	3	11301096	11301096	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:11301096C>T	uc010hdr.3	+	1	715	c.373C>T	c.(373-375)Cgc>Tgc	p.R125C	HRH1_uc010hds.3_Missense_Mutation_p.R125C|HRH1_uc010hdt.3_Missense_Mutation_p.R125C|HRH1_uc003bwb.4_Missense_Mutation_p.R125C|HRH1_uc021wtb.1_Missense_Mutation_p.R125C	NM_001098213	NP_001091683	P35367	HRH1_HUMAN	Homo sapiens histamine receptor H1 (HRH1), transcript variant 1, mRNA.	125					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	GTGCATTGATCGCTACCGCTC	0.552000														103			80		0	0	1	0	0
EFHC2	80258	broad.mit.edu	37	X	44108098	44108098	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:44108098C>T	uc004dgb.4	-	5	1012	c.923G>A	c.(922-924)gGt>gAt	p.G308D	EFHC2_uc022bvg.1_5'UTR	NM_025184	NP_079460	Q5JST6	EFHC2_HUMAN	Homo sapiens EF-hand domain (C-terminal) containing 2 (EFHC2), mRNA.	308	DM10 2.						calcium ion binding	p.G308D(2)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						TATAAAGTCACCATATGAATT	0.398000														5			13		0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157873990	157873990	+	Splice_Site	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:157873990C>T	uc003wno.3	-	11	1844	c.1723_splice	c.e11+1	p.V575_splice	PTPRN2_uc003wnp.3_Splice_Site_p.V558_splice|PTPRN2_uc003wnq.3_Splice_Site_p.V546_splice|PTPRN2_uc003wnr.3_Splice_Site_p.V537_splice|PTPRN2_uc011kwa.2_Splice_Site_p.V598_splice	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	575						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		ACAGCCTCACCTGTGGCCTTC	0.532000														67			17		0	0	1	0	0
ESR2	2100	broad.mit.edu	37	14	64749606	64749606	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:64749606G>A	uc001xha.1	-	1	566	c.98C>T	c.(97-99)cCt>cTt	p.P33L	ESR2_uc001xgy.2_Missense_Mutation_p.P33L|ESR2_uc001xgu.3_Missense_Mutation_p.P33L|ESR2_uc001xgv.3_Missense_Mutation_p.P33L|ESR2_uc001xgw.3_Non-coding_Transcript|ESR2_uc001xgx.3_Missense_Mutation_p.P33L|ESR2_uc010aqb.1_Non-coding_Transcript|ESR2_uc010aqc.1_Missense_Mutation_p.P33L|ESR2_uc001xgz.2_Missense_Mutation_p.P33L	NM_001437	NP_001428	Q92731	ESR2_HUMAN	Homo sapiens estrogen receptor 2 (ER beta) (ESR2), transcript variant a, mRNA.	33	Modulating.				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	ATAGGAGGAAGGTATGTATAT	0.443000														57			34		0	0	1	0	0
ASGR2	433	broad.mit.edu	37	17	7004974	7004974	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:7004974G>A	uc002gep.3	-	8	1123	c.856C>T	c.(856-858)Cgc>Tgc	p.R286C	ASGR2_uc002gen.1_Missense_Mutation_p.R267C|ASGR2_uc002geo.2_Missense_Mutation_p.R281C|ASGR2_uc002geq.3_Missense_Mutation_p.R262C|ASGR2_uc002ger.3_Missense_Mutation_p.R286C	NM_001181	NP_550434	P07307	ASGR2_HUMAN	Homo sapiens asialoglycoprotein receptor 2 (ASGR2), transcript variant 1, mRNA.	286	C-type lectin.				cell surface receptor linked signaling pathway|endocytosis	focal adhesion|integral to membrane|nucleolus	asialoglycoprotein receptor activity|protein binding|sugar binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4)	18					Antihemophilic Factor(DB00025)	TCGTTCCAGCGGCCATCCGGC	0.597000														48			29		0	0	1	0	0
PITPNM3	83394	broad.mit.edu	37	17	6381376	6381376	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:6381376G>A	uc002gdd.4	-	7	970	c.819C>T	c.(817-819)ttC>ttT	p.F273F	PITPNM3_uc010cln.3_Silent_p.F237F|PITPNM3_uc002gdc.4_5'UTR	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN	Homo sapiens PITPNM family member 3 (PITPNM3), transcript variant 1, mRNA.	273					phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		AGATGGCATCGAAGGCCAGGA	0.672000														56			18		0	0	1	0	0
AADACL2	344752	broad.mit.edu	37	3	151451916	151451916	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:151451916G>A	uc003ezc.3	+	0	213	c.93G>A	c.(91-93)tgG>tgA	p.W31*	MIR548H2_uc021xgb.1_Intron|AADACL2_uc010hvn.3_5'UTR	NM_207365	NP_997248	Q6P093	ADCL2_HUMAN	Homo sapiens arylacetamide deacetylase-like 2 (AADACL2), mRNA.	31						extracellular region|integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			AAGAAAGCTGGAAAATAATGG	0.378000														27			16		0	0	1	0	0
ODZ2	57451	broad.mit.edu	37	5	167645358	167645358	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:167645358C>T	uc010jjd.3	+	22	4435	c.4435C>T	c.(4435-4437)Ctc>Ttc	p.L1479F	ODZ2_uc003lzr.4_Missense_Mutation_p.L1249F|ODZ2_uc003lzt.4_Missense_Mutation_p.L852F|ODZ2_uc010jje.3_Missense_Mutation_p.L743F	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.									p.M1478L(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		CACTGGGGTCCTCTACATCAC	0.532000														99			37		0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31311936	31311936	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr18:31311936G>A	uc010dmg.1	+	8	939	c.884G>A	c.(883-885)gGa>gAa	p.G295E	ASXL3_uc002kxq.2_Missense_Mutation_p.G2E	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	295					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TCCTAGATGGGAAGTGATGGA	0.403000														67			23		0	0	1	0	0
KRT222	125113	broad.mit.edu	37	17	38816422	38816422	+	Missense_Mutation	SNP	T	G	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:38816422T>G	uc002hvc.2	-	2	328	c.263A>C	c.(262-264)cAg>cCg	p.Q88P	KRT222_uc002hvb.2_Missense_Mutation_p.Q48P|KRT222_uc010cxc.3_Missense_Mutation_p.Q48P	NM_152349	NP_689562	Q8N1A0	KT222_HUMAN	Homo sapiens keratin 222 (KRT222), mRNA.	88						intermediate filament	structural molecule activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1)	15						CTGGTAATGCTGCTCGCTGGC	0.433000														49			30		0	0	1	0	0
MAGI3	260425	broad.mit.edu	37	1	114189206	114189206	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:114189206C>T	uc001edk.3	+	11	2278	c.2097C>T	c.(2095-2097)tcC>tcT	p.S699S	MAGI3_uc001edh.3_Silent_p.S724S|MAGI3_uc001edi.4_Silent_p.S699S|MAGI3_uc010owm.2_Silent_p.S724S|MAGI3_uc001edj.3_Silent_p.S420S	NM_001142782	NP_001136254	Q5TCQ9	MAGI3_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 3 (MAGI3), transcript variant 1, mRNA.	724					apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGTCAGGATCCCCAAAATTGG	0.388000														40			30		0	0	1	0	0
GPR83	10888	broad.mit.edu	37	11	94113360	94113360	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:94113360C>T	uc001pet.2	-	3	1399	c.1227G>A	c.(1225-1227)ggG>ggA	p.G409G		NM_016540	NP_057624	Q9NYM4	GPR83_HUMAN	Homo sapiens G protein-coupled receptor 83 (GPR83), mRNA.	409						integral to membrane|plasma membrane	neuropeptide Y receptor activity			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GGTCTGTCTTCCCAGACTGGA	0.572000														25			15		0	0	1	0	0
LRIT2	340745	broad.mit.edu	37	10	85984695	85984695	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:85984695G>A	uc010qmc.2	-	1	294	c.286C>T	c.(286-288)Cta>Tta	p.L96L	LRIT2_uc001kcy.3_Silent_p.L96L	NM_001017924	NP_001017924	A6NDA9	LRIT2_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 2 (LRIT2), mRNA.	96						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						AGGGCTCCTAGGTGGATCACA	0.507000														64			45		0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70956752	70956752	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:70956752C>T	uc001swb.4	-	13	3416	c.3386G>A	c.(3385-3387)aGa>aAa	p.R1129K	PTPRB_uc010sto.2_Missense_Mutation_p.R1039K|PTPRB_uc010stp.2_Missense_Mutation_p.R1039K|PTPRB_uc001swc.4_Missense_Mutation_p.R1347K|PTPRB_uc001swa.4_Missense_Mutation_p.R1259K|PTPRB_uc001swd.4_Missense_Mutation_p.R1346K|PTPRB_uc009zrr.2_Missense_Mutation_p.R1226K	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1129	Fibronectin type-III 13.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AACTTGAGCTCTCTCCTGGAG	0.517000														32			17		0	0	1	0	0
PYHIN1	149628	broad.mit.edu	37	1	158911876	158911876	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:158911876C>T	uc001ftb.3	+	4	939	c.689C>T	c.(688-690)tCc>tTc	p.S230F	PYHIN1_uc001ftc.3_Missense_Mutation_p.S221F|PYHIN1_uc001ftd.3_Missense_Mutation_p.S230F|PYHIN1_uc001fte.3_Missense_Mutation_p.S221F	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN	Homo sapiens pyrin and HIN domain family, member 1 (PYHIN1), transcript variant 1, mRNA.	230	HIN-200.				cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					AAATATGAATCCTCAGAAAAT	0.383000														34			19		0	0	1	0	0
OR52K2	119774	broad.mit.edu	37	11	4471506	4471506	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:4471506G>A	uc001lyz.2	+	0	982	c.937G>A	c.(937-939)Gat>Aat	p.D313N		NM_001005172	NP_001005172	Q8NGK3	O52K2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily K, member 2 (OR52K2), mRNA.	313					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCCAAGAAAGGATATGTAGAG	0.478000														12			12		0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33329591	33329591	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr20:33329591G>A	uc002xav.3	-	11	7040	c.4469C>T	c.(4468-4470)tCg>tTg	p.S1490L	NCOA6_uc002xaw.3_Missense_Mutation_p.S1490L|NCOA6_uc021wcd.1_Intron|NCOA6_uc021wce.1_Missense_Mutation_p.S1490L|NCOA6_uc021wcf.1_Intron	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA.	1490					DNA recombination|DNA repair|DNA replication|brain development|cellular lipid metabolic process|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						TTGACTTAACGATGTTGGTGC	0.473000														42			29		0	0	1	0	0
PTGFRN	5738	broad.mit.edu	37	1	117504034	117504034	+	Silent	SNP	C	T	T	rs147606477	by1000genomes	TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:117504034C>T	uc001egv.1	+	4	1520	c.1383C>T	c.(1381-1383)agC>agT	p.S461S		NM_020440	NP_065173	Q9P2B2	FPRP_HUMAN	Homo sapiens prostaglandin F2 receptor negative regulator (PTGFRN), mRNA.	461	Ig-like C2-type 4.					Golgi apparatus|endoplasmic reticulum membrane|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		TGGTGACCAGCGAGCTGCTTG	0.547000														61			27		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196729643	196729643	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:196729643G>A	uc002utj.4	-	40	6837	c.6736C>T	c.(6736-6738)Cat>Tat	p.H2246Y		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	2246					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AAAAGCTCATGAAAATCTTCA	0.398000														34			23		0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26463416	26463416	+	Missense_Mutation	SNP	A	G	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:26463416A>G	uc001isn.2	+	29	4583	c.4223A>G	c.(4222-4224)aAg>aGg	p.K1408R	MYO3A_uc009xkp.1_Intron|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	1408					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AACATCAAGAAGAAGGATAAC	0.328000														59			29		0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62300757	62300757	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:62300757G>A	uc001ntl.3	-	4	1432	c.1132C>T	c.(1132-1134)Cca>Tca	p.P378S	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	378					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCAAGTGATGGCCCAGTGATT	0.597000														36			14		0	0	1	0	0
USHBP1	83878	broad.mit.edu	37	19	17370816	17370816	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:17370816C>T	uc002nfs.1	-	4	771	c.658G>A	c.(658-660)Gat>Aat	p.D220N	USHBP1_uc002nfr.1_5'Flank|USHBP1_uc002nft.1_Non-coding_Transcript|USHBP1_uc010xpk.1_Missense_Mutation_p.D156N|USHBP1_uc010eam.1_Missense_Mutation_p.D148N	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN	Homo sapiens Usher syndrome 1C binding protein 1 (USHBP1), mRNA.	220							PDZ domain binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						AAGAGGGAATCCTGCAGCTCT	0.597000														22			4		0	0	1	0	0
FUT3	2525	broad.mit.edu	37	19	5844280	5844280	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:5844280C>T	uc002mdk.2	-	1	668	c.571G>A	c.(571-573)Gag>Aag	p.E191K	FUT3_uc002mdm.2_Missense_Mutation_p.E191K|FUT3_uc002mdj.2_Missense_Mutation_p.E191K|FUT3_uc002mdl.2_Missense_Mutation_p.E191K|FUT3_uc021unn.1_Missense_Mutation_p.E191K	NM_001097641	NP_001091110	P21217	FUT3_HUMAN	Homo sapiens fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group) (FUT3), transcript variant 4, mRNA.	191					protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						GCCACCAGCTCGGTCTTGGCC	0.667000														27			10		0	0	1	0	0
CDH16	1014	broad.mit.edu	37	16	66945846	66945846	+	Silent	SNP	G	A	A	rs142024712	byFrequency	TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:66945846G>A	uc002eql.3	-	12	1940	c.1746C>T	c.(1744-1746)ttC>ttT	p.F582F	CDH16_uc010cdy.3_Silent_p.F582F|CDH16_uc021tjx.1_Silent_p.F582F|CDH16_uc002eqm.3_Silent_p.F485F	NM_004062	NP_004053	O75309	CAD16_HUMAN	Homo sapiens cadherin 16, KSP-cadherin (CDH16), transcript variant 1, mRNA.	582	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		TGGTCAGCAGGAAAGAGCCGG	0.622000														40			24		0	0	1	0	0
DHX57	90957	broad.mit.edu	37	2	39095333	39095333	+	Missense_Mutation	SNP	C	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:39095333C>A	uc002rrf.3	-	1	314	c.215G>T	c.(214-216)cGc>cTc	p.R72L	DHX57_uc002rre.3_5'Flank|DHX57_uc002rrg.3_Missense_Mutation_p.R72L	NM_198963	NP_945314	Q6P158	DHX57_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 (DHX57), mRNA.	72							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				CCTGGAAGGGCGCCTTGATTC	0.458000														41			21		3.08376e-08	3.10784e-08	1	1	0
ASXL3	80816	broad.mit.edu	37	18	31325980	31325980	+	Missense_Mutation	SNP	A	C	C			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr18:31325980A>C	uc010dmg.1	+	11	6223	c.6168A>C	c.(6166-6168)caA>caC	p.Q2056H	ASXL3_uc002kxq.2_Missense_Mutation_p.Q1763H	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	2056	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						ATCAAAAACAACCTCCAGTTA	0.532000														20			20		0	0	1	0	0
VAV1	7409	broad.mit.edu	37	19	6833197	6833197	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:6833197C>T	uc002mfu.1	+	15	1608	c.1511C>T	c.(1510-1512)tCc>tTc	p.S504F	VAV1_uc010xjh.1_Missense_Mutation_p.S472F|VAV1_uc010dva.1_Missense_Mutation_p.S504F|VAV1_uc002mfv.1_Missense_Mutation_p.S449F	NM_005428	NP_005419	P15498	VAV_HUMAN	Homo sapiens vav 1 guanine nucleotide exchange factor (VAV1), mRNA.	504	PH.				T cell costimulation|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CCTGCCAGCTCCAACATCTAT	0.433000														25			10		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13850786	13850786	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:13850786C>T	uc003jfd.2	-	30	5131	c.5089G>A	c.(5089-5091)Gaa>Aaa	p.E1697K		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1697	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGGCATATTTCCAACTGGTCC	0.493000									Kartagener syndrome					27			11		0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70512721	70512721	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:70512721C>T	uc001xly.3	-	7	3481	c.2727G>A	c.(2725-2727)tgG>tgA	p.W909*	SLC8A3_uc001xlv.3_Nonsense_Mutation_p.W280*|SLC8A3_uc001xlu.3_Nonsense_Mutation_p.W266*|SLC8A3_uc001xlw.3_Nonsense_Mutation_p.W906*|SLC8A3_uc001xlx.3_Nonsense_Mutation_p.W907*|SLC8A3_uc001xlz.3_Nonsense_Mutation_p.W903*|SLC8A3_uc010ara.3_Non-coding_Transcript	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	909					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TGTAGAGGAGCCACAGGCTCA	0.592000											OREG0022773	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		11			5		0	0	1	0	0
PYCR1	5831	broad.mit.edu	37	17	79892281	79892281	+	Missense_Mutation	SNP	G	A	A	rs138398362		TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:79892281G>A	uc002kct.1	-	6	800	c.718C>T	c.(718-720)Cat>Tat	p.H240Y	PYCR1_uc002kcp.3_Missense_Mutation_p.H240Y|PYCR1_uc002kcr.1_Missense_Mutation_p.H240Y|PYCR1_uc010wvd.1_Missense_Mutation_p.H267Y|PYCR1_uc002kcu.1_Missense_Mutation_p.H209Y|PYCR1_uc010wve.1_Missense_Mutation_p.H161Y	NM_006907	NP_008838	P32322	P5CR1_HUMAN	Homo sapiens pyrroline-5-carboxylate reductase 1 (PYCR1), transcript variant 1, mRNA.	240					cellular response to oxidative stress|proline biosynthetic process	mitochondrial matrix	binding|pyrroline-5-carboxylate reductase activity			endometrium(2)|kidney(1)|lung(1)|prostate(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		L-Proline(DB00172)|NADH(DB00157)	TGCAAGGCATGGATGGTGGCC	0.652000														3			5		0	0	1	0	0
TSIX	9383	broad.mit.edu	37	X	73049010	73049010	+	RNA	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:73049010G>A	uc004ebn.2	+	0		c.36971G>A			XIST_uc004ebm.1_Non-coding_Transcript					Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA.																		TGAAGACTCAGCTCTCTGCAC	0.408000														6			13		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9089000	9089000	+	Missense_Mutation	SNP	T	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:9089000T>A	uc002mkp.3	-	0	3019	c.2815A>T	c.(2815-2817)Ata>Tta	p.I939L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	939	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGTGAGATATTTTAGGAAGA	0.483000														32			27		0	0	1	0	0
COL24A1	255631	broad.mit.edu	37	1	86590585	86590585	+	Silent	SNP	T	G	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:86590585T>G	uc001dlj.3	-	2	1509	c.1434A>C	c.(1432-1434)ctA>ctC	p.L478L	COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_5'UTR|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript|COL24A1_uc009wcq.3_Silent_p.L478L	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA.	478					cell adhesion	collagen	extracellular matrix structural constituent	p.D477Y(1)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		GCATTGTATTTAGATCCTCAT	0.333000														35			19		0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10430078	10430078	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:10430078G>A	uc010coi.3	-	29	4153	c.4025C>T	c.(4024-4026)tCc>tTc	p.S1342F	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.S1342F|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1342					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GTCGTGGCGGGAAGACTGCAG	0.522000														60			35		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152507129	152507129	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:152507129C>T	uc021vrb.1	-	50	7215	c.7186G>A	c.(7186-7188)Gat>Aat	p.D2396N	NEB_uc002txu.3_Missense_Mutation_p.D2396N|NEB_uc021vrc.1_Missense_Mutation_p.D2396N|NEB_uc010fnx.3_Missense_Mutation_p.D2396N|NEB_uc021vrd.1_Missense_Mutation_p.D2396N	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	2396					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGCACAACATCGTTCTGATCA	0.388000														135			78		0	0	1	0	0
SH3TC2	79628	broad.mit.edu	37	5	148407305	148407305	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:148407305C>T	uc003lpu.3	-	10	2142	c.1990G>A	c.(1990-1992)Gga>Aga	p.G664R	SH3TC2_uc003lpp.1_Non-coding_Transcript|SH3TC2_uc010jgw.3_Missense_Mutation_p.G308R|SH3TC2_uc003lps.3_Non-coding_Transcript|SH3TC2_uc003lpt.3_Missense_Mutation_p.G211R|SH3TC2_uc010jgx.3_Missense_Mutation_p.G657R|SH3TC2_uc003lpv.1_Missense_Mutation_p.G211R|SH3TC2_uc011dbz.1_Missense_Mutation_p.G549R	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 2 (SH3TC2), mRNA.	664							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGGGTGTCCAGAGAGGAGC	0.597000														38			23		0	0	1	0	0
ANKRD29	147463	broad.mit.edu	37	18	21181241	21181241	+	Missense_Mutation	SNP	A	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr18:21181241A>T	uc002kun.3	-	9	1010	c.855T>A	c.(853-855)aaT>aaA	p.N285K	ANKRD29_uc002kuo.3_Missense_Mutation_p.N252K	NM_173505	NP_775776	Q8N6D5	ANR29_HUMAN	Homo sapiens ankyrin repeat domain 29 (ANKRD29), mRNA.	285										breast(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)	13	all_cancers(21;5.07e-05)|all_epithelial(16;2.49e-07)|Lung NSC(20;0.00211)|all_lung(20;0.00676)|Colorectal(14;0.0202)|Ovarian(20;0.127)					ATATACGTTCATTTTTGGTTA	0.428000														32			25		0	0	1	0	0
VPS72	6944	broad.mit.edu	37	1	151162562	151162562	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:151162562G>A	uc001exe.1	-	0	79	c.36C>T	c.(34-36)acC>acT	p.T12T	VPS72_uc001exf.1_Silent_p.T12T	NM_005997	NP_005988	Q15906	VPS72_HUMAN	Homo sapiens vacuolar protein sorting 72 homolog (S. cerevisiae) (VPS72), mRNA.	12					chromatin modification|negative regulation of transcription from RNA polymerase II promoter	nucleus|protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGTTCCCAGCGGTCTTCCGGG	0.632000														55			38		0	0	1	0	0
ABCC6	368	broad.mit.edu	37	16	16276417	16276417	+	Missense_Mutation	SNP	G	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:16276417G>T	uc002den.4	-	16	2136	c.2099C>A	c.(2098-2100)gCc>gAc	p.A700D	ABCC6_uc010bvo.3_Non-coding_Transcript	NM_001171	NP_001162	O95255	MRP6_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 6 (ABCC6), transcript variant 1, mRNA.	700	ABC transporter 1.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		CTGCACCCAGGCCTCCTGGGG	0.577000														35			17		3.28513e-13	3.32213e-13	1	1	0
ZBTB40	9923	broad.mit.edu	37	1	22848016	22848016	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:22848016C>T	uc001bft.2	+	15	3587	c.3076C>T	c.(3076-3078)Cga>Tga	p.R1026*	ZBTB40_uc001bfu.2_Nonsense_Mutation_p.R1026*|ZBTB40_uc009vqi.1_Nonsense_Mutation_p.R914*	NM_001083621	NP_055685	Q9NUA8	ZBT40_HUMAN	Homo sapiens zinc finger and BTB domain containing 40 (ZBTB40), transcript variant 1, mRNA.	1026					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		GTACCACAATCGAACCCACCA	0.498000														41			26		0	0	1	0	0
HK3	3101	broad.mit.edu	37	5	176314569	176314569	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:176314569C>T	uc003mfa.3	-	10	1575	c.1483G>A	c.(1483-1485)Gat>Aat	p.D495N	HK3_uc003mez.3_Missense_Mutation_p.D51N	NM_002115	NP_002106	P52790	HXK3_HUMAN	Homo sapiens hexokinase 3 (white cell) (HK3), nuclear gene encoding mitochondrial protein, mRNA.	495	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCAGTTGATCATGGTTCAAC	0.682000														27			21		0	0	1	0	0
ADAM20	8748	broad.mit.edu	37	14	70991364	70991364	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:70991364G>A	uc021rvs.1	-	0	261	c.261C>T	c.(259-261)ttC>ttT	p.F87F	ADAM20_uc001xme.3_Silent_p.F87F	NM_003814	NP_003805	O43506	ADA20_HUMAN	Homo sapiens ADAM metallopeptidase domain 20 (ADAM20), mRNA.	37					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		CTGGAGAAGTGAAATACTGGG	0.552000														33			21		0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56246224	56246224	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr18:56246224G>A	uc002lhj.4	-	3	1998	c.1784C>T	c.(1783-1785)tCc>tTc	p.S595F		NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	595							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						ATCAGCATGGGAACTCCGACC	0.488000											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		61			29		0	0	1	0	0
QRSL1	55278	broad.mit.edu	37	6	107102665	107102665	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:107102665C>T	uc003prm.3	+	7	1026	c.910C>T	c.(910-912)Ctc>Ttc	p.L304F		NM_018292	NP_060762	Q9H0R6	QRSL1_HUMAN	Homo sapiens glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1 (QRSL1), mRNA.	304					translation		ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor			endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;0.00768)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.248)	Epithelial(6;0.000334)|all cancers(7;0.00157)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0152)	BRCA - Breast invasive adenocarcinoma(108;0.118)|all cancers(137;0.167)|Epithelial(106;0.176)		AGCTGCTGACCTCTTTGAGTC	0.403000														23			28		0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56515104	56515104	+	Missense_Mutation	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:56515104C>T	uc002qmj.3	+	1	85	c.85C>T	c.(85-87)Cct>Tct	p.P29S	NLRP5_uc002qmi.3_Missense_Mutation_p.P29S	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	29						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TTCCACAGGTCCTACTTGCTC	0.428000														37			15		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54307210	54307210	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:54307210G>A	uc021smr.1	+	0	2110	c.2110G>A	c.(2110-2112)Gat>Aat	p.D704N	UNC13C_uc021sms.1_Missense_Mutation_p.D704N	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	704					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GTGCCACAGTGATCTTCAAGA	0.428000														7			6		0	0	1	0	0
MYF5	4617	broad.mit.edu	37	12	81111130	81111130	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:81111130G>A	uc001szg.2	+	0	423	c.288G>A	c.(286-288)ctG>ctA	p.L96L		NM_005593	NP_005584	P13349	MYF5_HUMAN	Homo sapiens myogenic factor 5 (MYF5), mRNA.	96	Helix-loop-helix motif.				muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity	p.L96L(2)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						GGAGGCGCCTGAAGAAGGTCA	0.602000														28			13		0	0	1	0	0
CAMK1G	57172	broad.mit.edu	37	1	209778994	209778994	+	Missense_Mutation	SNP	A	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:209778994A>T	uc001hhd.3	+	4	512	c.410A>T	c.(409-411)aAt>aTt	p.N137I	CAMK1G_uc001hhf.4_Missense_Mutation_p.N137I|CAMK1G_uc001hhe.3_Missense_Mutation_p.N137I	NM_020439	NP_065172	Q96NX5	KCC1G_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase IG (CAMK1G), mRNA.	137	Protein kinase.					Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		CTACATGAGAATGGCATCGTC	0.522000														46			39		0	0	1	0	0
LAPTM5	7805	broad.mit.edu	37	1	31214502	31214502	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:31214502C>T	uc001bsc.2	-	2	334	c.243G>A	c.(241-243)ctG>ctA	p.L81L	MIR4420_uc021okj.1_5'Flank	NM_006762	NP_006753	Q13571	LAPM5_HUMAN	Homo sapiens lysosomal protein transmembrane 5 (LAPTM5), mRNA.	81					transport	integral to plasma membrane|lysosomal membrane				large_intestine(2)|lung(7)|skin(1)	10		Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192)		STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649)		CTACGCCGATCAGTAGGCTCA	0.612000														6			4		0	0	1	0	0
PPIAL4E	730262	broad.mit.edu	37	1	148644424	148644424	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:148644424C>T	uc010paz.2	+	0	414	c.339C>T	c.(337-339)ttC>ttT	p.F113F		NM_001144032	NP_001137504	F5H284	F5H284_HUMAN	Homo sapiens peptidylprolyl isomerase A (cyclophilin A)-like 4E (PPIAL4E), mRNA.	113					protein folding		peptidyl-prolyl cis-trans isomerase activity										CCCAGTTTTTCATCTGTGCTG	0.483000														41			27		0	0	1	0	0
GPR19	2842	broad.mit.edu	37	12	12815066	12815066	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:12815066G>A	uc001rar.3	-	1	510	c.317C>T	c.(316-318)tCc>tTc	p.S106F	GPR19_uc001raq.2_Missense_Mutation_p.S106F|GPR19_uc021qvj.1_Missense_Mutation_p.S106F	NM_006143	NP_006134	Q15760	GPR19_HUMAN	Homo sapiens G protein-coupled receptor 19 (GPR19), mRNA.	106						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.048)		ACATGCCATGGAGACCACAAA	0.522000														29			18		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13776681	13776681	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:13776681C>T	uc003jfd.2	-	54	9282	c.9240G>A	c.(9238-9240)caG>caA	p.Q3080Q		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3080	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R3079*(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TATGAAGGTTCTGTCGGACCC	0.468000									Kartagener syndrome					32			24		0	0	1	0	0
OR1E2	8388	broad.mit.edu	37	17	3336434	3336434	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:3336434G>A	uc010vre.2	-	0	702	c.702C>T	c.(700-702)atC>atT	p.I234I		NM_003554	NP_003545	P47887	OR1E2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily E, member 2 (OR1E2), mRNA.	234					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(3)	9						GGACCTTGAGGATGGAGGAGA	0.478000														25			10		0	0	1	0	0
PPAP2B	8613	broad.mit.edu	37	1	56977713	56977713	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:56977713G>A	uc001cyj.2	-	4	1313	c.745C>T	c.(745-747)Cac>Tac	p.H249Y		NM_003713	NP_003704	O14495	LPP3_HUMAN	Homo sapiens phosphatidic acid phosphatase type 2B (PPAP2B), mRNA.	249					canonical Wnt receptor signaling pathway involved in positive regulation of cell-cell adhesion|canonical Wnt receptor signaling pathway involved in positive regulation of endothelial cell migration|canonical Wnt receptor signaling pathway involved in positive regulation of wound healing|germ cell migration|homotypic cell-cell adhesion|negative regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|sphingolipid metabolic process	Golgi apparatus|adherens junction|integral to membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|protein binding|sphingosine-1-phosphate phosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						TGGTGCTTGTGGTCTGATACG	0.572000														52			37		0	0	1	0	0
CCDC19	25790	broad.mit.edu	37	1	159857785	159857785	+	Missense_Mutation	SNP	C	T	T	rs140567807		TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:159857785C>T	uc001fui.3	-	4	452	c.434G>A	c.(433-435)cGa>cAa	p.R145Q	CCDC19_uc009wtb.3_Non-coding_Transcript|CCDC19_uc001fuk.3_Missense_Mutation_p.R60Q|CCDC19_uc001fuj.3_Non-coding_Transcript|CCDC19_uc009wtc.1_Missense_Mutation_p.R145Q	NM_012337	NP_036469	Q9UL16	CCD19_HUMAN	Homo sapiens coiled-coil domain containing 19 (CCDC19), mRNA.	145						mitochondrion|soluble fraction				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			GATCTTCTTTCGTGTCATCAC	0.552000														56			32		0	0	1	0	0
PCDHB12	56124	broad.mit.edu	37	5	140589695	140589695	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:140589695G>A	uc003liz.3	+	0	1405	c.1216G>A	c.(1216-1218)Gag>Aag	p.E406K	PCDHB12_uc011dak.2_Missense_Mutation_p.E69K	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	Homo sapiens protocadherin beta 12 (PCDHB12), mRNA.	406	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTTGGAAACAGAGAGACCGCT	0.498000														44			14		0	0	1	0	0
C16orf80	29105	broad.mit.edu	37	16	58149201	58149201	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:58149201G>A	uc002enb.1	-	3	714	c.437C>T	c.(436-438)aCc>aTc	p.T146I	C16orf80_uc021tje.1_Missense_Mutation_p.T146I	NM_013242	NP_037374	Q9Y6A4	CP080_HUMAN	Homo sapiens chromosome 16 open reading frame 80 (C16orf80), mRNA.	146					multicellular organismal development					kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						GATGTAATTGGTGCCGTATGC	0.552000														103			58		0	0	1	0	0
FRRS1L	23732	broad.mit.edu	37	9	111903822	111903822	+	Silent	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:111903822G>A	uc004bdw.1	-	3	663	c.663C>T	c.(661-663)gtC>gtT	p.V221V		NM_014334	NP_055149	Q9P0K9	CI004_HUMAN	Homo sapiens chromosome 9 open reading frame 4 (C9orf4), mRNA.	221	DOMON.					integral to membrane											GCTGTATGCGGACCCTGCCAT	0.448000														39			20		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179499494	179499494	+	Missense_Mutation	SNP	T	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:179499494T>A	uc021vsy.1	-	177	34628	c.34403A>T	c.(34402-34404)tAc>tTc	p.Y11468F	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.Y5163F|TTN_uc021vta.1_Missense_Mutation_p.Y5096F|TTN_uc021vtb.1_Missense_Mutation_p.Y4971F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	12395	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAGGGCCTGGTAGAGGACTTC	0.413000														55			46		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82544019	82544019	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:82544019G>A	uc003uhx.2	-	6	13572	c.13283C>T	c.(13282-13284)gCc>gTc	p.A4428V	PCLO_uc003uhv.2_Missense_Mutation_p.A4428V|PCLO_uc010lec.3_Missense_Mutation_p.A1393V	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4359	PDZ.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.A4428S(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GTCTGACATGGCATGTTGGAA	0.438000														17			5		0	0	1	0	0
MAGEB18	286514	broad.mit.edu	37	X	26157909	26157909	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:26157909C>T	uc022bub.1	+	0	807	c.807C>T	c.(805-807)ttC>ttT	p.F269F	MAGEB18_uc004dbq.2_Silent_p.F269F	NM_173699	NP_775970	Q96M61	MAGBI_HUMAN	Homo sapiens melanoma antigen family B, 18 (MAGEB18), mRNA.	269	MAGE.						protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						GCTATGAATTCCTGTGGGGTC	0.502000														6			10		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140755762	140755762	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:140755762C>T	uc003ljy.2	+	0	2112	c.2112C>T	c.(2110-2112)ttC>ttT	p.F704F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc011dau.2_Silent_p.F704F	NM_018919	NP_061742	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 6 (PCDHGA6), transcript variant 1, mRNA.	705					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGCGTCTTCCTGGCCTTCG	0.667000														57			23		0	0	1	0	0
OR8D2	283160	broad.mit.edu	37	11	124190000	124190000	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:124190000G>A	uc010sah.2	-	0	94	c.94C>T	c.(94-96)Ctt>Ttt	p.L32F		NM_001002918	NP_001002918	Q9GZM6	OR8D2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 2 (OR8D2), mRNA.	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		TATATTCCAAGGAACAGGAGG	0.458000														53			42		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103206742	103206742	+	Missense_Mutation	SNP	C	T	T	rs114306581	by1000genomes	TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:103206742C>T	uc022ajr.1	-	32	5025	c.4865G>A	c.(4864-4866)cGa>cAa	p.R1622Q	RELN_uc022ajq.1_Missense_Mutation_p.R1622Q|RELN_uc010liz.3_Missense_Mutation_p.R1622Q	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	1622					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TCCTTGGATTCGATACCAGTT	0.378000														42			29		0	0	1	0	0
KCNJ6	3763	broad.mit.edu	37	21	39086771	39086771	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr21:39086771G>A	uc011aej.1	-	2	742	c.689C>T	c.(688-690)tCc>tTc	p.S230F	KCNJ6_uc002ywo.2_Missense_Mutation_p.S230F	NM_002240	NP_002231	P48051	IRK6_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 6 (KCNJ6), mRNA.	230					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	CACAATGTGGGAATTCCTAAG	0.532000														42			17		0	0	1	0	0
RPSAP52	204010	broad.mit.edu	37	12	66152432	66152432	+	Missense_Mutation	SNP	C	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:66152432C>A	uc001sso.3	-	1	512	c.91G>T	c.(91-93)Ggg>Tgg	p.G31W						Homo sapiens ribosomal protein SA pseudogene 52 (RPSAP52), non-coding RNA.																		CCGTGGCTCCCAGTAGGCTGC	0.547000														18			7		0.000274275	0.000274941	1	1	0
VASH1	22846	broad.mit.edu	37	14	77242369	77242369	+	Missense_Mutation	SNP	G	A	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:77242369G>A	uc001xst.2	+	4	1595	c.665G>A	c.(664-666)cGg>cAg	p.R222Q		NM_014909	NP_055724	Q7L8A9	VASH1_HUMAN	Homo sapiens vasohibin 1 (VASH1), mRNA.	222					cell cycle arrest|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of endothelial cell proliferation	endoplasmic reticulum|extracellular space				breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|urinary_tract(3)	10			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0283)		GGCATGAGTCGGCGCGAGGAC	0.647000														7			6		0	0	1	0	0
AP5Z1	9907	broad.mit.edu	37	7	4821370	4821370	+	Silent	SNP	C	T	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:4821370C>T	uc003sne.3	+	2	436	c.351C>T	c.(349-351)tcC>tcT	p.S117S	AP5Z1_uc010ksp.3_Non-coding_Transcript	NM_014855	NP_055670	O43299	K0415_HUMAN	Homo sapiens KIAA0415 (KIAA0415), mRNA.	117					cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding										TGGTGGCCTCCGTTCTCTTGG	0.662000														24			7		0	0	1	0	0
SLC35D3	340146	broad.mit.edu	37	6	137243771	137243771	+	Missense_Mutation	SNP	C	G	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:137243771C>G	uc003qhe.3	+	0	370	c.205C>G	c.(205-207)Ccc>Gcc	p.P69A		NM_001008783	NP_001008783	Q5M8T2	S35D3_HUMAN	Homo sapiens solute carrier family 35, member D3 (SLC35D3), mRNA.	69					carbohydrate transport	integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	13	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)		CGCCGTGCCCCCCTTCGGTCT	0.716000														3			3		0	0	1	0	0
GNAT1	2779	broad.mit.edu	37	3	50229182	50229188	+	Frame_Shift_Del	DEL	GGAGAAG	-	-			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:50229182_50229188delGGAGAAG	uc003cym.2	+	0	140_146	c.24_30delGGAGAAG	c.(22-30)gaggagaagfs	p.E8fs	GNAT1_uc003cyl.2_Frame_Shift_Del_p.E8fs	NM_144499	NP_653082	P11488	GNAT1_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1 (GNAT1), transcript variant 1, mRNA.	8					G-protein signaling, coupled to cAMP nucleotide second messenger|detection of chemical stimulus involved in sensory perception of bitter taste|negative regulation of cyclic-nucleotide phosphodiesterase activity|rhodopsin mediated phototransduction|sensory perception of umami taste	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GDP binding|GTP binding|GTPase activity|acyl binding|protein kinase binding|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		CCAGTGCTGAGGAGAAGCACTCCAGGG	0.623													---	38	---	---	7	---					
CNOT6L	246175	broad.mit.edu	37	4	78697453	78697453	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:78697453delT	uc011ccd.2	-	1	230	c.99delA	c.(97-99)aaafs	p.K33fs	CNOT6L_uc003hks.3_Frame_Shift_Del_p.K33fs|CNOT6L_uc011cce.1_Frame_Shift_Del_p.K33fs	NM_144571	NP_653172	Q96LI5	CNO6L_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 6-like (CNOT6L), mRNA.	33					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						CCCAGTGAGATTTTTTCCCAT	0.373													---	133	---	---	80	---					
C5orf42	65250	broad.mit.edu	37	5	37170213	37170222	+	Frame_Shift_Del	DEL	GGCTCTCTGG	-	-	rs141413425		TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:37170213_37170222delGGCTCTCTGG	uc011cpa.1	-	32	6614_6623	c.6383_6392delCCAGAGAGCC	c.(6382-6393)gccagagagcctfs	p.A2128fs	C5orf42_uc011coy.1_Frame_Shift_Del_p.A628fs|C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Frame_Shift_Del_p.A1203fs|C5orf42_uc003jkr.1_Frame_Shift_Del_p.A161fs	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA.	2128										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			GTTCTTGCGAGGCTCTCTGGCGTTCTCTCC	0.410													---	144	---	---	41	---					
LCP2	3937	broad.mit.edu	37	5	169695439	169695439	+	Frame_Shift_Del	DEL	G	-	-			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:169695439delG	uc003man.1	-	7	778	c.571delC	c.(571-573)cagfs	p.Q191fs	LCP2_uc011des.1_5'Flank|LCP2_uc011det.1_Frame_Shift_Del_p.Q20fs|LCP2_uc010jjo.1_5'UTR	NM_005565	NP_005556	Q13094	LCP2_HUMAN	Homo sapiens lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa) (LCP2), mRNA.	191					T cell receptor signaling pathway|immune response|platelet activation|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		ATCGGTCTCTGGGGGGGCACA	0.607											OREG0017023	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	4	---	---	2	---					
RBM33	155435	broad.mit.edu	37	7	155503962	155503970	+	In_Frame_Del	DEL	GCAGCCGCT	-	-			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:155503962_155503970delGCAGCCGCT	uc010lqk.1	+	7	1382_1390	c.1014_1022delGCAGCCGCT	c.(1012-1023)ccgcagccgctg>ccg	p.QPL342del	RBM33_uc011kvv.1_In_Frame_Del_p.QPL151del	NM_053043	NP_444271	Q96EV2	RBM33_HUMAN	Homo sapiens RNA binding motif protein 33 (RBM33), mRNA.	342	Pro-rich.						RNA binding|nucleotide binding	p.P340P(2)		breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		TGTTCCAGCCGCAGCCGCTGCAGCCGCTG	0.646													---	45	---	---	10	---					
PTEN	5728	broad.mit.edu	37	10	89692885	89692886	+	Frame_Shift_Ins	INS	-	TG	TG	rs121909223		TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:89692885_89692886insTG	uc001kfb.3	+	4	1401_1402	c.369_370insTG	c.(367-372)cactgtfs	p.H123fs	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	123	Phosphatase tensin-type.		H -> R (in CD).|H -> Y (in endometrial cancer; loss of protein phosphatase activity).		T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.C124S(10)|p.C124fs*10(6)|p.?(5)|p.H123Y(5)|p.R55fs*1(5)|p.I122fs*2(3)|p.A121_F145del(2)|p.Y27fs*1(2)|p.C124R(2)|p.Y27_N212>Y(2)|p.C124F(1)|p.H123D(1)|p.I122N(1)|p.I122S(1)|p.I122V(1)|p.F56fs*2(1)|p.C124Y(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CAGCAATTCACTGTAAAGCTGG	0.406		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			---	141	---	---	95	---					
C17orf85	55421	broad.mit.edu	37	17	3717754	3717754	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:3717754delT	uc010ckl.1	-	11	1512	c.1489delA	c.(1489-1491)agafs	p.R497fs	C17orf85_uc002fwr.2_Frame_Shift_Del_p.R207fs|C17orf85_uc002fwq.2_Frame_Shift_Del_p.R217fs	NM_001114118	NP_061023	Q53F19	CQ085_HUMAN	Homo sapiens chromosome 17 open reading frame 85 (C17orf85), mRNA.	497							nucleotide binding			endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)		GAATGTGGTCTTTTTCCTAAC	0.507													---	20	---	---	15	---					
FLCN	201163	broad.mit.edu	37	17	17127428	17127428	+	Frame_Shift_Del	DEL	G	-	-			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:17127428delG	uc002gra.4	-	5	930	c.426delC	c.(424-426)ttcfs	p.F142fs	PLD6_uc010cpn.3_Intron|FLCN_uc002grb.4_Frame_Shift_Del_p.F142fs	NM_144997	NP_659434	Q8NFG4	FLCN_HUMAN	Homo sapiens folliculin (FLCN), transcript variant 1, mRNA.	142					regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						CATCTCCGAAGAAGATGGGGC	0.572									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome				---	3	---	---	3	---					
CPD	1362	broad.mit.edu	37	17	28706062	28706064	+	In_Frame_Del	DEL	CTG	-	-			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:28706062_28706064delCTG	uc002hfb.2	+	0	121_123	c.64_66delCTG	c.(64-66)ctgdel	p.L25del	CPD_uc010wbo.2_5'Flank|CPD_uc010wbp.2_5'Flank	NM_001304	NP_001295	O75976	CBPD_HUMAN	Homo sapiens carboxypeptidase D (CPD), transcript variant 1, mRNA.	25					proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						GCTCATGTGCCTGCTGCTGCTGG	0.729													---	4	---	---	2	---					
DUSP3	1845	broad.mit.edu	37	17	41852248	41852248	+	Frame_Shift_Del	DEL	C	-	-			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:41852248delC	uc002ied.4	-	1	260	c.184delG	c.(184-186)gcgfs	p.A62fs	DUSP3_uc021tya.1_Non-coding_Transcript|DUSP3_uc002iee.4_Frame_Shift_Del_p.A62fs	NM_004090	NP_004081	P51452	DUS3_HUMAN	Homo sapiens dual specificity phosphatase 3 (DUSP3), mRNA.	62					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|inactivation of MAPK activity|innate immune response|negative regulation of ERK1 and ERK2 cascade|negative regulation of JNK cascade|negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of mitotic cell cycle|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|immunological synapse|nucleoplasm	MAP kinase phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	7		Breast(137;0.00725)		BRCA - Breast invasive adenocarcinoma(366;0.116)		CCCTCAGCCGCGTTCAGCACA	0.547													---	115	---	---	56	---					
GLTSCR2	29997	broad.mit.edu	37	19	48254316	48254316	+	Frame_Shift_Del	DEL	C	-	-			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:48254316delC	uc002phm.2	+	3	574	c.550delC	c.(550-552)cccfs	p.P184fs	GLTSCR2_uc010elk.1_5'Flank	NM_015710	NP_056525	Q9NZM5	GSCR2_HUMAN	Homo sapiens glioma tumor suppressor candidate region gene 2 (GLTSCR2), mRNA.	184				RRKEQLWEKLAKQGELPREVRRAQARLLNPSATRAKPGPQD TVERP -> SGRSSYGRSWPSRASSPGGAQGPSPVAQPFCN KGPNPAPGHRIAA (in Ref. 3; AAG30413).		nucleolus				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		CAAGCCCGGGCCCCAGGACAC	0.657													---	4	---	---	2	---					
ATRN	8455	broad.mit.edu	37	20	3526472	3526473	+	Frame_Shift_Ins	INS	-	G	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr20:3526472_3526473insG	uc002wim.2	+	3	762_763	c.672_673insG	c.(670-675)ggttatfs	p.G224fs	ATRN_uc002wil.2_Frame_Shift_Ins_p.G224fs|ATRN_uc021vzz.1_Frame_Shift_Ins_p.G108fs	NM_139321	NP_647537	O75882	ATRN_HUMAN	Homo sapiens attractin (ATRN), transcript variant 1, mRNA.	224	CUB.				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						CCACATCAGGTTATGCCTTGCT	0.381													---	50	---	---	25	---					
MAPK8IP2	23542	broad.mit.edu	37	22	51041769	51041771	+	In_Frame_Del	DEL	GAG	-	-			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr22:51041769_51041771delGAG	uc003bmx.3	+	2	406_408	c.289_291delGAG	c.(289-291)gagdel	p.E103del	MAPK8IP2_uc003bmy.3_In_Frame_Del_p.E76del|MAPK8IP2_uc011asc.2_5'Flank	NM_012324	NP_036456	Q13387	JIP2_HUMAN	Homo sapiens mitogen-activated protein kinase 8 interacting protein 2 (MAPK8IP2), transcript variant 1, mRNA.	103	Asp/Glu-rich (acidic).				MAPKKK cascade|behavioral fear response|dendrite morphogenesis|nonassociative learning|positive regulation of anti-apoptosis|regulation of JNK cascade|regulation of excitatory postsynaptic membrane potential|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	MAP-kinase scaffold activity|beta-amyloid binding|kinesin binding|protein kinase activator activity|protein kinase binding	p.E97delE(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		ggacgaggaagaggaggaggagg	0.631													---	3	---	---	3	---					
